Dandy-Walker Malformation and Posterior Fossa Malformations

Congenital cerebellar malformation of heterogeneous aetiology, defined by inferior-predominant vermian hypoplasia with cystic fourth ventricular dilation, and the spectrum of cystic posterior fossa abnormalities in its differential diagnosis: Blake's pouch cyst, mega cisterna magna and vermian hypoplasia; includes genetic forms due to 3q24 deletion (ZIC1/ZIC4), 6p25.3 dosage alteration (FOXC1), Ritscher-Schinzel 3C syndrome (WASHC5/CCDC22), Pettigrew syndrome (AP1S2), Dandy-Walker with occipital cephalocele (NID1/LAMC1) and PHACE syndrome.

Literature and regulatory information updated: 9 October 2026.

0. Initial Reference Table

Dandy-Walker malformation (DWM) is a neuroradiological phenotype rather than a single disease, so the table separates general malformation data from data for each genetic or syndromic entity covered in the article.

1. Introduction

1.1. Historical overview

Reports of cerebellar malformations date back to the nineteenth century, but the entity now called Dandy-Walker malformation was built in three stages. In 1914, Dandy and Blackfan published an experimental, clinical and pathological study of internal hydrocephalus, cited as the first report of the malformation [33, 34]. In 1942, Taggart and Walker described the condition as congenital atresia of the foramina of Luschka and Magendie, an obstructive interpretation expressed in the title of the article, and this publication is considered the point at which the malformation became defined [34, 35]. In 1954, Benda published “The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie”, which established the eponym and questioned atresia as an explanation in the title itself; one of the cases was a twin whose co-twin had died between 22 and 25 weeks of gestation, an observation that anticipated the role of non-genetic prenatal factors [34, 36]. The three historical articles are cited here from their bibliographic metadata and from the description by Aldinger and colleagues in 2019; the full texts were not consulted.

The first recurrence risk estimate came from Murray, Johnson and Bird's series (1985), assembling 21 autopsy cases and 92 literature cases and showing marked aetiological heterogeneity: high sibling recurrence when DWM formed part of a monogenic disease such as Walker-Warburg or Meckel-Gruber syndrome, and empirical risk of 1 to 5% without Mendelian or chromosomal disease [37]. In 2003, Parisi and Dobyns proposed an embryological classification of midbrain and hindbrain malformations, separating DWM from degenerative pontocerebellar hypoplasias, Joubert syndrome with the molar tooth sign and vermian hypoplasias including an X-linked form, and noted that DWM without other malformations had a better outcome than previously assumed [38].

1.2. Milestones in molecular discovery

In 2004, Grinberg and colleagues mapped interstitial 3q2 deletions in several individuals with DWM and defined the first critical region, containing two adjacent Zinc finger in cerebellum family genes, ZIC1 and ZIC4; mice with heterozygous deletion of both linked genes reproduced a closely human-like phenotype, the first DWM animal model [4]. In 2009, Aldinger and colleagues identified a second locus at 6p25.3, where deletions or duplications including FOXC1 are associated with cerebellar vermian hypoplasia, mega cisterna magna and DWM, and showed FOXC1 acts from mesenchyme surrounding the rhombic lip [5]. In 2013, exome sequencing in families with autosomal dominant DWM and occipital cephalocele revealed NID1 and LAMC1 variants disrupting basement membrane nidogen–laminin γ1 interaction [6]; that same year Elliott and colleagues identified KIAA0196, now WASHC5, as the cause of Ritscher-Schinzel 3C syndrome in a northern Manitoba First Nations founder community [39]. In 2019, Aldinger and colleagues' study of 100 probands with cerebellar hypoplasia or DWM showed most implicated genes were already associated with neurodevelopmental disorders and that DWM should rarely be a final diagnosis [34]; in 2021, the same research network localised the primary disturbance to the fetal rhombic lip [40].

1.3. Nomenclature, reclassifications and differences in definition

The classical definition, reproduced in Oxford Desk Reference, rests on a triad: cystic fourth ventricular dilation, complete or partial cerebellar vermian agenesis and enlarged posterior fossa with superior tentorial displacement [1, 41]. Orphanet uses a different triad for isolated disease (ORPHA:217), with hydrocephalus as one of three signs alongside partial or complete vermian absence and a posterior fossa cyst contiguous with the fourth ventricle [9]. These definitions are not equivalent: in Oxford Desk Reference, hydrocephalus is a frequent complication rather than a criterion, and Orphanet's “with hydrocephalus” and “without hydrocephalus” subentities themselves became obsolete, acknowledging DWM without hydrocephalus [9]. Klein and colleagues' series (Necker, 2003) adopted strict criteria including enlarged posterior fossa and elevated tentorium [42].

In 2022, an international neuroradiologist panel reviewed 446 scans, 174 fetal and 272 postnatal, and proposed a current Dandy-Walker phenotype definition: inferior-predominant vermian hypoplasia (mandatory), inferolateral displacement of tela choroidea and choroid plexus (mandatory when visible), unpaired caudal lobule or “tail sign” (mandatory when visible), increased tegmentovermian angle and obtuse fastigial recess, the last two being the most discriminating measures [3]. The group recommended eliminating posterior fossa size and torcular position from criteria because they depend on fourth ventricular cerebrospinal fluid (CSF) outlet obstruction rather than the malformation itself [3]. This difference between the classical triad and 2022 criteria has practical consequences: a normal-sized posterior fossa does not exclude DWM, and a large cyst with an enlarged fossa may represent Blake's pouch cyst.

“Dandy-Walker variant”, introduced for mild phenotypes with vermian hypoplasia and cystic dilation communicating with the fourth ventricle, has been applied inconsistently to different entities and is now discouraged [1–3]. The same applies to “Dandy-Walker complex”, which grouped DWM, vermian hypoplasia and mega cisterna magna in several prenatal series, making their figures difficult to compare with current data [31, 43, 44]. A 2025 narrative review still uses “Dandy-Walker syndrome” for a continuum of classic DWM, Blake's pouch cyst and mega cisterna magna, a concept not supported by the 2022 panel [3, 45]. When a series uses older terminology, this article indicates its original designation in quotation marks.

Orphanet reorganised classification into a hierarchy of “cystic posterior fossa malformations” (ORPHA:729557), with branches for isolated, genetic and syndromic forms, retaining syndrome categories with DWM as a major feature (ORPHA:269570 and ORPHA:269546) [9].

1.4. Definition of entities within scope

Dandy-Walker malformation is defined here by the 2022 criteria: inferior-predominant vermian hypoplasia with superior vermian rotation, cystic fourth ventricular dilation communicating with the cisterna magna and inferolateral tela choroidea and choroid plexus displacement [3]. Isolated DWM, without other structural abnormalities, is distinguished from associated DWM (DWM+ in some series), present in 50 to 70% [12].

Blake's pouch cyst (BPC) is a midline medullary velum evagination into the cisterna magna, resulting from failure of fenestration of Blake's pouch, an embryonic structure derived from fourth ventricular tela choroidea; vermian size is normal but the vermis is rotated, and choroid plexus position remains normal [3, 28].

Mega cisterna magna (MCM) is an enlarged cisterna magna, exceeding 10 mm in fetuses, with normal vermis and no hydrocephalus; Orphanet gives childhood values exceeding 15 mm length, 5 mm height and 20 mm width [30].

Vermian hypoplasia (VH) is globally reduced vermian volume without tela choroidea displacement or an obtuse fastigial angle; inferior vermian hypoplasia is inferior-predominant, with reduced vermian ratio and an acute fastigial angle [3, 32]. Vermian aplasia is a midline defect between cerebellar hemispheres without posterior fossa enlargement [41].

A posterior fossa arachnoid cyst is an arachnoid-bounded CSF collection without obligatory fourth ventricular communication; 10 to 30% of arachnoid cysts are in the posterior fossa [46].

The genetic and syndromic entities included — 3q24 deletion with ZIC1 and ZIC4, 6p25.3 dosage alteration with FOXC1, Ritscher-Schinzel 3C syndrome, Pettigrew syndrome, autosomal dominant DWM with occipital cephalocele and PHACE syndrome — are defined in sections 2 and 3. Joubert syndrome and related disorders, with the molar tooth sign, pontocerebellar hypoplasias and early-onset ataxias are part of the differential diagnosis.

2. Molecular Genetics and Pathophysiology

2.1. Posterior fossa embryology and pathogenesis

The cerebellar vermis forms through midline fusion of the cerebellar primordia and completes development only between 17 and 18 gestational weeks; at 15–16 weeks it commonly appears incompletely formed, so DWM should not be diagnosed before 18 weeks [1]. In the first trimester, the fourth ventricle communicates with Blake's pouch, an evagination of its posterior membranous area; following pouch fenestration forming the foramen of Magendie, communication is with the cisterna magna, so a “cystic posterior fossa” at 13–14 weeks usually represents normal development [14]. Failure of pouch fenestration produces persistent BPC; failure of anterior membranous area resolution and inferior vermian development leaves thickened tela choroidea and inferolaterally displaced choroid plexus, defining DWM under current criteria [3, 47].

The rhombic lip, a dorsal progenitor zone producing posterior vermian neurones, is specifically disturbed in DWM: histological and transcriptomic analysis of human fetal cerebella showed reduced progenitor proliferation and self-renewal and altered vasculature [40]. Authors proposed a unified model whereby a rhombic lip insult before 14 postconceptional weeks produces DWM and a later insult vermian hypoplasia [40]. Radiopathological correlation of nine fetal DWM autopsies and eight controls confirmed thickened tela choroidea with two arachnoid layers lined by attenuated plexus epithelium and inferolateral choroid plexus displacement in DWM [47].

Among genes with variants in cerebellar malformation patients, Aldinger and colleagues identified several highly expressed in vascular cells (BRAF, DDX3X, FGFR1, FOXP1, PPP1CB, SETD2) and documented de novo gain-of-function PDGFRB variants in cerebellar hypoplasia and mega cisterna magna; the vascular hypothesis unites genetic and non-genetic causes such as prenatal cerebellar haemorrhage, extreme prematurity and twinning [34].

2.2. Aetiological architecture

DWM is aetiologically heterogeneous. Among 562 EUROCAT DWM cases (2002–2015), 48.6% had the cerebral malformation as an isolated abnormality, 24.2% other non-cerebral structural abnormalities, 19.2% chromosomal abnormalities and 5.5% genetic syndromes [11]. In older prenatal ultrasound series, abnormal karyotypes reached 46% of tested “Dandy-Walker” fetuses and 36% of tested “Dandy-Walker variant” fetuses (Boston, 99 fetuses) [48], and Oxford Desk Reference summarises that almost half of DWM fetuses have a chromosomal abnormality [1]. These proportions depend on diagnostic timing and population: prenatal series include fetuses with lethal aneuploidies not surviving postnatally.

Among children with DWM without a prior genetic diagnosis, exome sequencing identified a cause in 16% (7/43) in Aldinger's cohort versus 51% (29/57) with cerebellar hypoplasia; excluding prenatal risk factors (extreme prematurity, twinning, haemorrhage) increased yield to 23% (7/31) for DWM and 72% (26/36) for cerebellar hypoplasia [34]. Non-genetic prenatal factors were present in 28% (12/43) with DWM, and among 12 discordant twin pairs, six were discordant for DWM, four monozygotic [34]. In 91 individuals with DWM and other abnormalities referred for clinical exome to a US laboratory (2012–2025), yield was 35.2% (32/91) [12]. Most implicated genes (27 in the 2019 cohort, 31 in 2026), 78% in 2019, are associated with general neurodevelopmental disorders rather than specific cerebellar malformations [12, 34].

Few genes have direct evidence for isolated DWM: contiguous ZIC1 and ZIC4 deletion, FOXC1 dosage alteration and, with occipital cephalocele, NID1 and LAMC1 [6, 12].

2.3. 3q24 deletion with ZIC1 and ZIC4

ZIC1 (HUGO Gene Nomenclature Committee [HGNC] identifier 12872; 3q24; MANE Select reference transcript, Matched Annotation from NCBI and EMBL-EBI, NM_003412.4) and ZIC4 (HGNC:20393; 3q24; MANE NM_032153.6) are adjacent genes encoding C2H2 zinc-finger transcription factors homologous to the Drosophila odd-paired gene [8, 49, 50]. ZIC1 participates in neurogenesis, early CNS organogenesis, dorsal spinal cord, cerebellar maturation and distribution of mossy-fibre-producing pontine neurones, and retains GLI1 and GLI3 in the cytoplasm, modulating hedgehog signalling [49]. In mice lacking Zic1 and Zic4, the cerebellum is small because sonic hedgehog (Shh)-dependent postnatal granule cell progenitor proliferation is reduced, with decreased Ptch1, Gli1 and Mycn; anterior vermian foliation depends on Zic genes through a Shh-independent mechanism [51].

DWM results from heterozygous deletion of both linked genes [4]. Tohyama and colleagues' Japanese patient (2011) had DWM, intellectual impairment, epilepsy, spina bifida and dysmorphism (thick eyebrows, broad nose, thick lips, macroglossia), with interstitial 3q23-q25.1 deletion confirmed by fluorescence in situ hybridisation (FISH) and microarray including ZIC1 and ZIC4 at 3q24; the face was incompatible with blepharophimosis syndrome (FOXL2), whose gene lies in the same region [19]. GeneGuidance describes the deletion as “3q25.1”; HGNC locates both genes at 3q24, and 3q25.1 applies only to larger deletions extending to that band [8, 19, 49].

ZIC1 variant interpretation requires care because three mechanisms and phenotypes exist [49]. Last-exon variants (exon 3) escape nonsense-mediated decay (NMD) and act through gain of function, causing severe coronal craniosynostosis with variable learning difficulties (craniosynostosis 6, OMIM 616602; five families, four with nonsense and one with missense variants); OMIM phenotype 618736, “structural brain anomalies with intellectual disability and craniosynostosis”, includes microcephaly, corpus callosum agenesis, posterior fossa abnormalities, cerebellar hemispheric hypoplasia and partial vermian absence with hemispheric fusion [49]. Zinc-finger-domain missense variants in exons 1 and 2 act through loss of function, causing neurodevelopmental disorder without craniosynostosis; a 2026 series assembled 18 variants in 22 families and 30 individuals, with craniosynostosis, dysmorphism, cerebral abnormality and delay in 12 families and isolated neurodevelopmental disorder in 10 [49]. ZIC1-related craniosynostosis also appears in the Saethre-Chotzen syndrome and enlarged parietal foramina GeneReviews as a coronal craniosynostosis differential [52, 53]. The third mechanism is contiguous ZIC1–ZIC4 deletion, the only one associated with DWM. The Gene Curation Coalition (GenCC) classifies isolated ZIC1 variant–DWM validity as “Limited”, and Clinical Genome Resource (ClinGen) found no evidence that isolated ZIC1 haploinsufficiency is pathogenic; therefore, a ZIC1 point variant should not be reported as a DWM cause [49]. ClinGen classifies ZIC1–craniosynostosis 6 validity as definitive [49].

2.4. 6p25.3 dosage alteration with FOXC1

FOXC1 (HGNC:3800; 6p25.3; NM_001453) encodes a forkhead transcription factor required for neural-crest-derived ocular anterior segment development; haploinsufficiency is established (ClinGen scores 3 for haploinsufficiency, 0 for triplosensitivity), and heterozygous variants and 6p25 deletions cause Axenfeld-Rieger syndrome type 3 (OMIM 602482) and anterior segment dysgenesis type 3 (OMIM 601631) [20]. In Axenfeld-Rieger syndrome, PITX2 (4q25) accounts for 40 to 55% and FOXC1 8 to 25%, and glaucoma appears earlier with FOXC1 (mean 6 years) than PITX2 (18 years) [21].

In 2009, Aldinger and colleagues showed 6p25.3 deletions or duplications including FOXC1 were associated with cerebellar vermian hypoplasia, mega cisterna magna and DWM, and initial brain imaging in patients with FOXC1 point variants and Axenfeld-Rieger syndrome showed vermian hypoplasia [5]. Foxc1-null mice have embryonic rhombic lip changes from loss of mesenchyme-secreted signalling molecules, with loss of vermian Atoh1 expression, and homozygous hypomorphs have vermian hypoplasia; the conclusion was that isolated FOXC1 alteration causes vermian hypoplasia and contributes to mega cisterna magna and DWM through mesenchymal–neuroepithelial interaction [5]. Foxc1 hypomorphs form an incomplete posterior lobule reproducing the human MRI “tail sign”, and human fetal cerebella with 6p25 deletion have an overlapping phenotype [54].

Recurrent subtelomeric 6p25 deletion syndrome (OMIM 612582) combines anterior segment dysgenesis, deafness, congenital heart disease, CNS malformations (DWM, hydrocephalus), developmental delay, hypertelorism and downslanting palpebral fissures [10, 21, 55]. In the Lyon series of six fetuses with apparently isolated DWM and normal conventional karyotype, two had subtelomeric 6p deletion [56]. GeneGuidance does not mention DWM in the FOXC1 record: the association between FOXC1 and the cerebellum comes from primary literature and reference textbooks [5, 20].

2.5. Autosomal dominant DWM with occipital cephalocele: NID1, LAMC1 and locus 2q36.1

Autosomal dominant DWM with occipital cephalocele was first linked to 2q36.1 in a Vietnamese-American family (multipoint LOD 3.3; 1.1 Mb region, without coding variants in its five genes); a Brazilian family with the same phenotype showed no linkage, demonstrating locus heterogeneity, and one isolated DWM case had a terminal 2q deletion [7]. Darbro and colleagues (2013) identified through exome sequencing a NID1 variant (1q42.3; MANE NM_002508.3) in one family and a LAMC1 variant (1q25.3; MANE NM_002293.4) in another; both disrupt basement membrane nidogen-1–laminin γ1 chain interaction, implicating extracellular matrix in pathogenesis [6, 8].

Two additional three-generation families with NID1 variants expanded the phenotype [25]. NID1 NM_002508.2:c.1162C>T was described in two three-generation families (McNiven 2019), ranging from occipital cephalocele with bone defect and arachnoid cysts to a small isolated occipital bone defect; MANE normalisation gives NM_002508.3:c.1162C>T, for which VariantValidator predicts NP_002499.2:p.(Gln388Ter) (GRCh38 reference genome coordinate NC_000001.11:g.236038227G>A) [25, 57]. Authors proposed “autosomal dominant posterior fossa abnormalities with occipital cephaloceles” because DWM is not obligatory [25]. A third family (Dietvorst 2023) had NM_002508.3:c.3336T>G p.(Asn1112Lys) (NC_000001.11:g.235980545A>C) [25, 57]. All families showed incomplete penetrance and intrafamilial variability, reported carriers had normal neurological examination and psychomotor development, and imaging apparently unaffected relatives revealed the mild spectrum extreme [25]. The NID1–DWM relationship has no mapped OMIM phenotype or ClinGen classification in consulted sources [25].

2.6. 3C syndrome (Ritscher-Schinzel): WASHC5 and CCDC22

WASHC5 (formerly KIAA0196; 8q24.13; MANE NM_014846.4) encodes strumpellin, a 1159-amino-acid protein in the pentameric WASH complex (WASH1, FAM21, strumpellin, KIAA1033/SWIP and CCDC53), recruited to endosomes by retromer [8, 10]. CCDC22 (Xp11.23; MANE NM_014008.5) is a scaffold protein in the CCC complex (CCDC22, CCDC93 and COMMD proteins), which with Retriever forms Commander and regulates endosomal recycling of low-density lipoprotein receptor (LDLR) and integrins; it also participates in NF-κB activation [10, 23]. Loss of function of either complex explains patient hypercholesterolaemia through LDLR mislocalisation [10]. Smith's Recognizable Patterns of Human Malformation gives the old symbol as “KIAA9196”, a typographical error: the correct symbol was KIAA0196, now WASHC5 [8, 58].

All tested First Nations individuals from northern Ontario and Manitoba were homozygous for NM_014846.3:c.3335+2T>A (MANE NM_014846.4:c.3335+2T>A; GRCh38 NC_000008.11:g.125032239A>T), a splice donor variant causing exon 27 skipping, frameshift, termination after amino acid 1128 (loss of 99 C-terminal amino acids replaced by 68 new ones), mean 7.8-fold transcript reduction through NMD and 60% protein reduction [10, 39, 57]. Reported CCDC22 variants include NM_014008.4:c.1670A>G p.(Tyr557Cys), with 50% expression reduction in a large Australian X-linked intellectual impairment family (Voineagu 2012), and NM_014008.4:c.49A>G p.(Thr17Ala), with fivefold mRNA reduction and intron 1 retention in two Austrian brothers (Kolanczyk 2015); numbering is unchanged on MANE NM_014008.5 [10, 23, 57]. Hypomorphic CCDC22 variants affecting COMMD binding cause an attenuated phenotype without cardiac or cerebral malformations; epileptic encephalopathy and focal epilepsy with focal cortical dysplasia have also been described [23]. A large Colombian Ritscher-Schinzel-like family without WASHC5 or CCDC22 variants demonstrates additional genetic heterogeneity [10]. Kolanczyk and colleagues proposed “WASHopathies” for the group [10].

WASHC5 has a distinct allelic disease: autosomal dominant hereditary spastic paraplegia type 8 (SPG8, OMIM 603563), caused by missense variants with a dominant effect, whereas 3C syndrome results from biallelic loss of function [59]. SPG8 is pure spastic paraplegia beginning at 10–59 years, with 90 to 100% penetrance, accounting for approximately 4 to 5% of hereditary spastic paraplegias, described in North American, British and Brazilian patients [59].

2.7. Pettigrew syndrome: AP1S2

AP1S2 (Xp22.2; NM_003916) encodes σ1B of the AP-1 adaptor complex, mediating clathrin recruitment at the trans-Golgi network and endosomes [24]. The X-linked loss-of-function disease was historically divided into three names — Pettigrew syndrome (MRXS5), Fried syndrome and MRX59 — now a single entity (OMIM 304340; ORPHA:1568) [24, 60]. All described variants are loss-of-function, expressivity varies markedly within and between families, and carrier females are generally unaffected [24]. Inborn Metabolic Diseases includes AP1S2 among cellular trafficking diseases causing DWM alongside KIAA1109 (Alkuraya-Kucinskas syndrome, with arthrogryposis and DWM) [61, 62].

2.8. Other genes associated with DWM

Aldinger's study (2019) identified non-syndromic epilepsy, intellectual impairment and autism genes with abnormal cerebellum (AHDC1, AUTS2, BCL11A, DDX3X, FOXP1, KIF4A, PUS3, SETD2, SPTAN1, STXBP1, TMLHE); FOXP1, SETD2, PUS3, ZIC1–ZIC4 and FOXC1 were associated with both cerebellar hypoplasia and DWM [34]. Genes known before that study, excluding α-dystroglycanopathies and ciliopathies, were CASK, OPHN1, ZIC1–ZIC4 and FOXC1 [34]. The 2026 cohort with DWM and other abnormalities described nine phenotypic expansions, all in known syndrome genes, with low DWM penetrance in KMT2D, Ras/MAPK pathway genes and SMARCB1 [12].

Source: Araji and colleagues, 2026, Table 1 [12]. The article prints the provisional COL4A1 variant transcript as “NM_0018456.6”, a typographical error; variants were transcribed as published without independent normalisation.

Three reports published in 2026 broaden the spectrum. In Japan, genome sequencing in three patients with DWM identified heterozygous variants in TUBB2B in one patient and in TUBB3 in another, suggesting that some cases labelled DWM belong to the tubulinopathy spectrum with cerebellar hypoplasia [63]. In India, a child with severe congenital communicating hydrocephalus, DWM, cerebellar hypoplasia and dysmorphism had the homozygous variant WDR91 NM_014149.4:c.1245_1246del p.(Arg415SerfsTer64), with asymptomatic heterozygous parents; the gene, related to WDR81 (CAMRQ2, OMIM 610185; congenital hydrocephalus 3, OMIM 617967), was not catalogued in OMIM at the time [64]. In China, a 16-month-old girl with “Dandy-Walker variant”, microcephaly, epilepsy and severe global delay had heterozygous CACNA1I NM_021096.4:c.4891T>A p.(Phe1631Ile) and homozygous LRP5 NM_002335.4:c.1310C>T p.(Thr437Met) within a region of homozygosity on chromosome 11, presented as a dual-diagnosis hypothesis; the abstract does not state the classification of the variants according to the American College of Medical Genetics and Genomics (ACMG) criteria [65]. The three reports are single cases or three-patient series and do not, on their own, establish a gene–disease relationship.

Other monogenic causes occur in differential diagnosis series. Autosomal recessive VPS35L Ritscher-Schinzel-like syndrome shares intellectual impairment, heart disease, coloboma and vermian hypoplasia [10]. DPH1 syndrome (Loucks-Innes syndrome; diphthamide deficiency; OMIM 616901; ORPHA:459061; autosomal recessive) combines DWM, vermian hypoplasia or a posterior fossa cyst with delay, scaphocephaly with or without craniosynostosis, sparse hair, short stature, hypoplastic toenails and heart disease; fewer than 20 patients had been described by 2021 [10, 66]. Intronic DPH1 c.749+39G>A escaped microarray and exome detection and was identified only on reanalysis with RNA sequencing confirmation (Waskow 2025); the reference base matches MANE NM_001383.6 (NC_000017.11:g.2039862G>A), but the original publication's transcript is not given in consulted sources [57, 66]. In keratitis-ichthyosis-deafness (KID) syndrome, GJB2 NM_004004.6:c.148G>A p.(Asp50Asn), historically D50N, was associated with DWM in eight of nine patients in a series, all with minimal or absent neurological abnormalities [67, 68]. In a highly consanguineous Riyadh cohort, autosomal recessive monogenic causes predominated (MPL, C5orf42/CPLANE1, ISPD/CRPPA, PDHA1, PNPLA8, JAM3, COL18A1) [69].

2.9. Inborn errors of metabolism with DWM or posterior fossa abnormalities

Several inborn errors of metabolism produce DWM or posterior fossa abnormalities, with therapeutic implications. Boys with hemizygous EBP variants (sterol Δ8-Δ7 isomerase deficiency) may have a Smith-Lemli-Opitz-like phenotype with DWM and corpus callosum agenesis, ichthyosis and high mortality between the first day and 4.5 years [61, 70]. In Smith-Lemli-Opitz syndrome, DWM and variants are among CNS abnormalities [71]. Severe neonatal carnitine palmitoyltransferase II (CPT II) deficiency is associated with congenital malformations, particularly renal cysts and migration defects such as DWM [72, 73]. Molybdenum cofactor deficiency (MoCD) may involve mega cisterna magna or DWM, findings present in MoCD and typically absent in hypoxic-ischaemic encephalopathy, helping distinguish them in newborns with seizures [74]. Fumarate hydratase deficiency may show a “Dandy-Walker cyst” and corpus callosum agenesis on prenatal ultrasound [75]. In pyridoxine-dependent epilepsy (ALDH7A1), mega cisterna magna, posterior fossa cysts and cerebellar hypoplasia should not deter antiquitin deficiency investigation [76, 77]. In PMM2-CDG, cisterna magna and superior cerebellar cistern enlargement occurs towards the end of the first year with atrophy, and DWM and small white matter cysts have been reported [78]; B4GALT1-CDG reports include DWM, progressive hydrocephalus, coagulopathy and elevated creatine kinase, from a since-retired GeneReviews chapter cited solely as historical reference [79]. Huppke-Brendel syndrome (SLC33A1) causes predominantly vermian cerebellar hypoplasia, DWM and mega cisterna magna [80], and asparagine synthetase deficiency involves vermian hypoplasia in 41%, with reported Blake's pouch or arachnoid cysts [81]. In the Yakut NBAS deficiency cohort, the vermis was normal in 18 of 24 patients and one had DWM [82].

2.10. Chromosomal and teratogenic causes and other non-genetic factors

Among chromosomal causes, trisomy 18 is most frequent in prenatal series: in a Chinese cohort of 487 broadly defined “DWM” fetuses, karyotype was abnormal in 8.62% and trisomy 18 accounted for 2.26% overall [31]. Within trisomy 18, DWM occurs in fewer than 10% [83]. 3q duplication is associated with corpus callosum agenesis, cortical dysgenesis and DWM [84]; DWM is occasional in XYY syndrome [85] and reported in Emanuel syndrome with unknown frequency [86]. In the Lyon series, one apparently isolated DWM fetus had 4qter deletion with partial 7p trisomy alongside the two with 6p deletion [56]. In fetal cerebellar hypoplasia, the most frequent CMA findings were 5p15 deletion, terminal 6q deletion and X-chromosome aberrations [87]. Mosaic variegated aneuploidy syndrome combines severe microcephaly, cataracts and variable DWM; its descriptive GeneReviews chapter was retired and is cited solely as historical reference [88].

Teratogens should be investigated in the history [41]. In warfarin embryopathy, exposure at 14–20 weeks is associated with microcephaly, hydrocephalus, DWM, corpus callosum agenesis, median cerebellar atrophy and ocular abnormalities, and DWM has been described after first-trimester exposure [89]. In retinoic acid embryopathy (isotretinoin, half-life 22 hours), posterior fossa malformations include cerebellar hypoplasia, vermian agenesis, cerebellar microdysgenesis and mega cisterna magna [90, 91]. Oxford Desk Reference recommends asking about retinoic acid, cytomegalovirus (CMV) and excessive alcohol with any cerebellar abnormality [41]. Congenital Zika syndrome includes posterior fossa abnormalities with brainstem, cerebellar and spinal cord hypoplasia, and a Smith figure shows a posterior fossa fluid collection whose differential is enlarged cisterna magna versus BPC [92]. Maternal diabetes and in utero infection are reported associations through indirect attribution [12].

In the US National Birth Defects Prevention Study (NBDPS; 1997–2009 deliveries; 160 cases and 10,200 controls), DWM was associated with non-Hispanic black maternal race or ethnicity (adjusted odds ratio [aOR] 2.0; 95% CI 1.3–3.2), infertility history (aOR 2.4; 95% CI 1.3–4.6) and multiple pregnancy (aOR 3.9; 95% CI 1.7–8.9); lack of association with most studied maternal exposures was interpreted as supporting a major genetic contribution [93]. Prenatal cerebellar haemorrhage may precede postnatal DWM (“acquired” DWM), and cerebellar injury risk below 28 weeks may reach 16% (indirect attribution) [34].

2.11. Normalised variants cited in the article

Variants follow Human Genome Variation Society (HGVS) nomenclature on MANE Select transcripts, with the original published description and VariantValidator-derived GRCh38 genomic coordinate [57].

3. Clinical Spectrum and Manifestations by System

3.1. Dandy-Walker malformation: age-specific presentation and natural history

The DWM clinical spectrum ranges from asymptomatic finding to severe neonatal presentation with hypotonia, respiratory difficulty, hydrocephalus and seizures [12]. Reported courses range from normal development to severe disability with perinatal death, with poor fetal and perinatal prognosis predominantly related to extra-CNS malformations, particularly cardiac [1]. The following data come from different populations — prenatal series, operated children, population registries and administrative databases — and are not directly comparable.

Fetal period. In EUROCAT (2002–2015), among 562 DWM cases, 39.2% were liveborn, 4.3% fetal deaths from 20 weeks and 56.5% medical terminations following prenatal diagnosis; prenatal detection was 87.6% [11]. In Ecker's Boston series, 86% of “Dandy-Walker” fetuses had other abnormalities, with ventriculomegaly in 32% and heart disease in 38%; half of 99 pregnancies were terminated and only three “Dandy-Walker” fetuses were liveborn, one normal at six weeks [48]. These figures reflect the era (1990s) and older terminology including cases now reclassified.

Neonatal period and early childhood. Hydrocephalus occurs in approximately 80% of children with DWM according to the 2026 review [12], and 66% in a prenatal series of 15 fetuses [96]; in the Lyon series, all four children born with confirmed DWM after prenatal diagnosis of isolated disease required ventriculoperitoneal shunting for early postnatal hydrocephalus despite normal prenatal ventricles [1, 56]. In the Cincinnati series, all seven DWM patients with postnatal follow-up required shunts, 66% were intubated at birth, none required tracheostomy and two of five survivors had no neurological impairment [97]. In the New York State malformation registry, infant mortality among children with “Dandy-Walker syndrome” was 250 per 1000, increasing with associated abnormality count [98]. In the US Kids' Inpatient Database (1997–2003; 14,599 patients with ICD-9-CM 742.3), hospital mortality was tenfold higher than matched controls (odds ratio 10.02) and unfavourable discharge disposition 4.59 times more frequent; 20.4% underwent surgical CSF drainage [99]. These latter figures measure admissions and administratively coded registry cohorts rather than isolated DWM natural history.

Neurodevelopment. The assumption that DWM implies intellectual impairment was corrected by series separating isolated from associated DWM. In the Necker series (26 non-syndromic DWM patients meeting strict criteria, median age 10.5 years), 21 whose vermis had two fissures, three lobes and a fastigium had no other cerebral malformations and, except two explained by other causes (fragile X syndrome and periventricular leukomalacia), had normal intellectual functioning (developmental or intelligence quotient at least 85); five with dysplastic vermis (one or no fissure) invariably had major cerebral abnormalities, predominantly complete corpus callosum agenesis, and all had intellectual impairment [42]. Hydrocephalus and extracerebral malformations did not correlate with outcome [42]. In a second series from the same centre (20 patients, mean age 14.6 years), 14 with normal intellectual development had normal vermian lobulation and no supratentorial abnormalities, and authors concluded that half of DWM patients have normal intellectual development [100]. In Aldinger's genetic cohort, excluding previously diagnosed patients, intellectual impairment affected 54% (20/37) with DWM versus 84% (48/57) with cerebellar hypoplasia [34].

Brainstem. In a multicentre cohort of 329 patients with a Dandy-Walker phenotype, 73 had an additional brainstem malformation: a mild form, with anteroposterior disproportions and pontine hypoplasia (57/73, 78%), and a severe form, with tegmental dysplasia with folds, bulges or clefts (16/73, 22%); the severe form was associated with massive ventriculomegaly, malformations of the corpus callosum and grey matter, interhemispheric cysts and, clinically, greater bulbar dysfunction, seizures and mortality [101]. In the 2022 criteria study, brainstem dysmorphism was present in 66.9% of scans with DWM and pontine hypoplasia in 86.0% (189/220) [3]. Malformations in which the brainstem abnormality predominates, such as pontine tegmental cap dysplasia and brainstem disconnection, form a separate differential.

Epilepsy. In the Riyadh cohort, seizures occurred in 45% with DWM versus 17.9% with other posterior fossa abnormalities [69]; Cincinnati reports epilepsy risk in DWM and vermian hypoplasia [97].

Late presentation. Orphanet describes early presentation with hydrocephalus, occipital bulging and posterior fossa signs (cranial nerve palsies, nystagmus, ataxia) [9]. The US patient association describes developmental delay, hypotonia and later spasticity, ataxia, macrocephaly and intracranial hypertension signs from hydrocephalus (lay source) [102].

3.2. Extra-CNS manifestations of associated DWM

Associated malformations increase the probability of syndromic aetiology. Congenital heart disease affects approximately 40% of DWM fetuses and suggests chromosomal abnormality or 3C syndrome; polydactyly suggests trisomy 13 or Joubert syndrome; renal abnormalities, arthrogryposis and sex reversal are further indicators [1]. Murray and colleagues noted associations with congenital heart disease, cleft lip and palate and neural tube defects [37]. In the North Carolina series of 24 children with “Dandy-Walker variant”, 41.7% had cardiac, 33.3% neurological and 20.8% gastrointestinal abnormalities [103].

3.3. Blake's pouch cyst

BPC is usually benign: it may be asymptomatic or cause hydrocephalus in childhood or adulthood, with headache, hypotonia, vertigo, syncope, vomiting, blurred vision or diplopia, nystagmus, papilloedema or delayed walking [28]. Prenatally, 42.7% (95% CI 35.7–49.8) of isolated BPCs resolve in utero [104]; in the Bologna and Bari series, BPC and MCM resolved in approximately one-third [29]. In Cincinnati, BPC could complicate with hydrocephalus but outcome was favourable [97]. Persistent BPC was described in three patients with SETD2-related neurodevelopmental disorder [105].

3.4. Mega cisterna magna

MCM is mostly asymptomatic, but Orphanet describes variable courses potentially including speech and language delay, motor delay, visuospatial difficulties and attention deficit [30]. Prenatal series found normal outcomes in all followed isolated MCM cases in Cincinnati and Bern (12 of 12) [2, 106], and 11 of 11 isolated cases in an English series with cisterna magna exceeding 10 mm at 18–23 weeks [44].

3.5. Isolated vermian hypoplasia

Isolated VH ranges from normal to motor and language delay, variable intellectual impairment, hypotonia, ataxia, oculomotor abnormalities, epilepsy, attention deficit hyperactivity disorder and anxiety [32]. In Boston, 20 children with isolated inferior vermian hypoplasia on fetal MRI were followed to school age (6.1 ± 1.9 years): all with postnatal confirmation had normal neurodevelopment, and two with cognitive or behavioural delays had more extensive cerebellar malformation; parental stress remained high [107]. In Milan, six of seven fetuses with MRI-confirmed isolated VH had normal outcomes or minimal deficits at median six-year follow-up [108]. In Cincinnati, VH was strongly associated with genetic conditions and cardiac malformations, and abnormal gait odds were 12-fold higher with an associated syndrome or lesion [97].

3.6. 3q24 deletion with ZIC1 and ZIC4

Described patients have DWM with intellectual impairment, epilepsy and dysmorphism; Tohyama's patient also had spina bifida, thick eyebrows, broad nose, thick lips and macroglossia within an extensive 3q23-q25.1 deletion where other genes may contribute [4, 19]. Reported patient numbers are small and consulted sources do not permit estimating intellectual impairment or hydrocephalus frequencies in this entity.

3.7. 6p25.3 dosage alteration with FOXC1

The FOXC1 cerebellar phenotype ranges from vermian hypoplasia to mega cisterna magna and DWM [5]. 6p25 deletion syndrome combines anterior segment dysgenesis, deafness, congenital heart disease, CNS malformations, hydrocephalus, developmental delay, hypertelorism and downslanting palpebral fissures; the face has prominent forehead, midface hypoplasia, epicanthus, ptosis, proptosis, abnormal ears, flat nasal bridge, short smooth philtrum and high palate [10, 21]. Glaucoma is the most consequential ocular complication, with approximately 50% risk in Axenfeld-Rieger syndrome and earlier onset with FOXC1 [21, 109]. A cohort of 128 with PITX2 or FOXC1 variants (Reis 2023) generated recommendations for lifelong ophthalmological surveillance, repeated audiometry, echocardiography and dental assessment [20]. Because 6p25 deletion shares DWM, hydrocephalus, heart disease and anterior chamber abnormality with 3C syndrome, it is the main differential diagnosis [10, 58].

3.8. 3C syndrome (Ritscher-Schinzel)

Ritscher and colleagues described the syndrome in 1987 in two sisters with similar craniofacial abnormalities, one with complete atrioventricular septal defect and “Dandy-Walker variant”, the other partial atrioventricular septal defect and DWM; in 1989, Verloes and colleagues described a third case and proposed 3C, from craniofacial, cerebellar and cardiac [58]. GeneReviews defines craniofacial abnormalities, cerebellar defects and cardiovascular malformations as cardinal findings [10].

Growth. Birth weight is generally normal and short stature mild; many develop obesity in late childhood, progressing in adulthood, which with a short neck increases obstructive sleep apnoea syndrome (OSAS) risk [10].

Face and head. Macrocephaly, brachycephaly, flat occiput (prominent in some), hypotonic face with tongue protrusion tendency, short midface and flat profile, thick arched eyebrows, downslanting palpebral fissures, widely spaced eyes, depressed nasal bridge, low-set ears with overfolded superior helix, short smooth philtrum, high or cleft palate, short broad neck with low hairline and webbing [10]. Cleft palate occurs in fewer than 5% (high palate is frequent), micrognathia in approximately 20% and iris and optic nerve coloboma in approximately 20% [10].

CNS and development. Commonest malformations are DWM, vermian hypoplasia, posterior fossa cysts and, less frequently, hydrocephalus [10]. Most have significant intellectual impairment, neonatal hypotonia and motor and speech delay, but most acquire walking, self-feeding and limited useful speech [10].

Heart. Heart disease affects more than half: atrioventricular septal defect, mitral valve abnormalities (including cleft mitral valve), atrial septal defect, ventricular septal defect, double-outlet right ventricle, aortic stenosis, pulmonary stenosis and tetralogy of Fallot [10].

Hands and skeleton. Brachydactyly particularly affecting the second ray, camptodactyly, proximally placed thumbs and abnormal palmar creases; radiographs of eight Manitoba and north-western Ontario patients showed short first metacarpals and fifth distal phalanges, a “wavy” metacarpophalangeal profile, overtubulation of metacarpals 2 to 4 and prominent distal tufts [10].

Metabolism. Hypercholesterolaemia, with elevated low-density lipoprotein (LDL) cholesterol from childhood and no described xanthomas, results from LDLR mislocalisation and is reported predominantly with WASHC5 [10].

Findings in fewer than 10%. Absent ribs, adrenal hypoplasia, anal atresia, congenital glaucoma, clubfoot, aplasia cutis, haemangioma, hemivertebrae, hypospadias, inguinal hernia, intestinal malrotation, nail and nipple hypoplasia, polydactyly and renal malformations; humoral immune deficiency described in one patient was subsequently attributed to gastrointestinal IgG loss [10]. Smith additionally lists occasional iris heterochromia, bifid uvula, growth hormone deficiency, sensorineural deafness and single umbilical artery [58].

Gene-specific differences. Boys with CCDC22 variants have upslanting palpebral fissures (rare in First Nations patients), more pronounced large protruding tongue and ectodermal findings (nail hypoplasia, abnormal dentition, aplasia cutis); no genotype–phenotype correlations are established [10]. GeneGuidance additionally lists short stature, spinal curvature, genital abnormalities and hypercholesterolaemia for CCDC22 [23].

Mortality: disagreement between sources. Smith reports death before 4 years in half of reported cases, predominantly from severe heart disease, rarely necessary hydrocephalus shunting and, in Ritscher's original case, short stature and mild intellectual impairment at 21 years [58]. This proportion derives from premolecular literature assembled from severe published cases; the 2020 GeneReviews, predominantly based on the molecularly confirmed First Nations cohort, describes most acquiring walking and useful speech and reaching adulthood with progressive obesity [10]. These sources measure different populations, and neither provides a survival rate calculated in a molecular cohort with a denominator.

3.9. Pettigrew syndrome

Affected boys have generally severe to profound (occasionally mild) intellectual impairment, marked early hypotonia, delayed or absent walking, limited or absent speech, progressive spasticity, seizures, choreoathetosis, aggression, autistic features and mild dysmorphism with facial coarsening; imaging shows hydrocephalus or ventriculomegaly and DWM [24]. Basal ganglia mineralisation is characteristic but absent in infancy, appears in childhood and may progress, so normal early MRI does not exclude it; CSF protein may be elevated [24]. Orphanet describes iron deposition, a long face with prominent forehead and progression to contractures [60].

3.10. Autosomal dominant DWM with occipital cephalocele

The phenotype ranges from DWM with occipital cephalocele to arachnoid cyst and small isolated occipital bone defect; reported NID1 family carriers had normal psychomotor development and neurological examination [25]. In a Lucknow surgical series (2012–2024), DWM with occipital encephalocele represented 3.9% (5/128) [110]. Occipital cephalocele also characterises Meckel-Gruber and Walker-Warburg syndromes, which should be considered before assuming dominant disease [111, 112].

3.11. PHACE syndrome

PHACE denotes posterior fossa malformations, extensive segmental infantile haemangioma, cervicocephalic arterial abnormalities, cardiac abnormalities and aortic coarctation, and eye abnormalities; S (PHACES) is added for sternal or ventral midline defects such as sternal cleft and supraumbilical raphe [26, 27, 113]. The acronym was coined in 1996 and 2009 diagnostic criteria revised in the 2016 consensus [27]. Smith places PHACE within the sternal malformation–vascular dysplasia spectrum and considers aetiology unknown [113]. Orphanet retains a separate historical “DWM–facial haemangioma” entry (ORPHA:1564) without definition [26].

Posterior fossa and brain. Posterior fossa abnormalities range from focal cerebellar dysplasia to cystic malformations including “Dandy-Walker complex”, with frequency 30.4–81% by series; in a neuroimaging study, 41% (24/59) had structural cerebral abnormalities, and all unilateral lesions accompanied ipsilateral arteriopathy and haemangioma [27]. Supratentorial abnormalities include congenital cysts, dysplasia, volume loss, neuronal migration abnormalities, midline and pituitary defects and acquired ischaemic infarction [27].

Arteries. Vascular abnormalities are the commonest extracutaneous manifestation; progressive stenosis or occlusion, with or without moyamoya-like collaterals, confers arterial ischaemic stroke (AIS) risk. In a review of 22 published PHACE AIS cases, mean age was 13.6 months, presentation involved seizures and hemiparesis, every infarct occurred in at least one narrowed or non-visualised arterial territory and 79% had two or more abnormal arteries [27].

Heart and aorta. Congenital heart disease affects 41 to 67% and coarctation 19 to 30%; arch abnormalities are long and complex, with narrowed or interrupted segments adjacent to aneurysmal dilations, and aberrant subclavian origin, present in 50% with heart disease, makes four-limb blood pressure unreliable; 37% with arch abnormalities require surgery [27].

Other manifestations. More frequent, severe and earlier headaches than other children; sensorineural hearing loss ipsilateral to haemangioma or conductive loss; dysphagia and speech and language disorders, more frequent with posterior fossa malformation; hypothyroidism, hypopituitarism with growth hormone deficiency, hypogonadotrophic hypogonadism and late adrenal insufficiency; enamel hypoplasia in 28% of 18 studied children, all with intraoral haemangioma [27].

3.12. Other syndromes with frequent or occasional DWM

In Walker-Warburg syndrome, cerebellar malformation occurs in 100%, DWM in 53%, occipital encephalocele in 24% and anterior chamber malformations in 91% [112]. In X-linked Opitz G/BBB (MID1), midline brain defects — DWM and corpus callosum or vermian agenesis or hypoplasia — occur in approximately half of boys undergoing MRI [114]. In orofaciodigital syndrome type I (OFD1), cerebral abnormalities affect up to 65% and include cerebellar agenesis with or without DWM [115, 116]. In early-onset CSF1R-related disease, DWM occurred in 7 of 19 in one series, with calcifications and white matter changes [117]. In CHST14 musculocontractural Ehlers-Danlos syndrome, “Dandy-Walker variant” occurs in 9% (2/20) [118]. In Ellis-van Creveld syndrome, DWM occurs in fewer than 5% [119, 120]. Remaining associations are summarised in section 6's differential table.

4. Clinical Recognition and Warning Signs

4.1. Prenatal period

Most DWM is now suspected on second-trimester anomaly ultrasound: 87.6% of EUROCAT cases were prenatally diagnosed [11]. International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines recommend routine axial transcerebellar screening document cerebellar presence and shape and cisterna magna CSF; normal cerebellum is butterfly-shaped with hemispheres joined by slightly more echogenic vermis, and cisterna magna measures 2–10 mm [13]. Cisterna magna exceeding 10 mm, a cystic space between hemispheres, a vermis not seen closing the fourth ventricle after 18 weeks, small transverse cerebellar diameter or ventriculomegaly warrant targeted neurosonography referral [1, 13]. Before 18 weeks, suspicion should be communicated as provisional because vermian development is incomplete [1, 13].

First-trimester “cystic posterior fossa” usually represents normal development and should be interpreted in the midsagittal plane [14]. Increased nuchal translucency has been described in WASHC5 3C syndrome, and first-trimester ultrasound targeting heart disease and nuchal translucency is recommended in at-risk pregnancies [10].

Applicable targeted neurosonography indications include suspected malformation on screening, family history of hereditary CNS malformation, previously affected pregnancy, fetal congenital heart disease, monochorionic twins, suspected congenital infection, teratogen exposure and a CMA finding of uncertain significance [13].

4.2. Newborns and infants

Warning signs are excessive or rapidly increasing head circumference, a tense fontanelle, occipital bulging, hypotonia, respiratory difficulty, apnoeas, bulbar dysfunction (sucking and swallowing difficulty), nystagmus and seizures [9, 12, 101]. Episodically irregular breathing, with hyperventilation alternating with hypoventilation, abnormal eye movements (oculomotor apraxia) and polydactyly point towards Joubert syndrome and other ciliopathies [41]. In a newborn with seizures, the presence of mega cisterna magna or DWM in apparently hypoxic-ischaemic encephalopathy should prompt exclusion of molybdenum cofactor deficiency [74].

4.3. Children, adolescents and adults

DWM may be discovered later while investigating macrocephaly, developmental delay, ataxia, headache or intracranial hypertension signs, or incidentally [9, 102]. BPC may present in adulthood with hydrocephalus, headache, vertigo, syncope, visual changes or papilloedema [28]. In ataxic children and ataxic cerebral palsy, high-resolution MRI is necessary before definitive counselling because congenital structural cerebellar lesions modify recurrence risk [121, 122].

4.4. Signs suggesting a specific genetic entity

4.5. Emergency signs

Neurosurgical emergencies include intracranial hypertension from hydrocephalus, apnoea and progressive bulbar dysfunction and, with a shunt, signs of malfunction or infection, complications prompting revision in published series [9, 16, 17, 101]. In PHACE, sudden infant seizures or hemiparesis should be managed as suspected AIS [27]. No laboratory newborn screening exists for DWM.

5. Diagnosis: Criteria, Tests and Algorithms

5.1. Imaging criteria

No single diagnostic criterion is accepted by every source; the table compares definitions because published series applied different criteria.

The 2022 criteria resulted from reviewing 446 scans from international centres, reclassifying 96 (21.5%; 24% fetal and 19% postnatal); initial errors tended to confuse DWM with intraventricular haemorrhage and BPC [3]. Tegmentovermian angle (TVA) alone discriminated DWM from non-DWM with C-statistic 0.901 postnatally, and optimised models reached 0.927 prenatally and 0.944 postnatally; in the published example, a newborn with DWM had TVA 35° and fastigial angle 119° [3]. In a 27-case fetal MRI series, TVA was significantly greater in DWM than VH and BPC, and BPC was defined as normal vermian size for gestation with TVA above 18° [123]. Tela choroidea was confidently or borderline visible in 53 to 72% of 100 fetal MRIs, with moderate interobserver agreement (κ 0.49; 95% CI 0.34–0.62), and choroid plexus in only 21 to 27% (κ 0.27; 95% CI 0.10–0.44), limiting practical use [47].

The posterior-fossa-size approach proposed by Shekdar and reproduced in Oxford Desk Reference remains useful initially: a small posterior fossa suggests genetic syndromes with vermian hypoplasia, rhombencephalosynapsis, pontocerebellar hypoplasias or cerebellar atrophy; a large fossa suggests DWM, BPC, MCM or arachnoid cyst, predominantly sporadic developmental disorders [1]. The 2022 criteria emphasise posterior fossa size alone is not a DWM criterion [3].

5.2. Targeted neurosonography and fetal MRI

ISUOG distinguishes fetal CNS screening from targeted neurosonography [13, 14]. At second-trimester screening, axial transventricular and transcerebellar planes, with transthalamic for biometry, suffice; atrial width, transverse cerebellar diameter (increasing approximately 1 mm weekly at 14–21 weeks), biparietal diameter and head circumference form part of biometry, and cisterna magna is measured only when apparently abnormal, from the outer border of the most dorsal vermian point to the inner occiput, normally 2–10 mm (slightly above 10 mm in dolichocephaly) [13]. In low-risk pregnancies with satisfactory planes, normal head circumference, atrium below 10 mm and cisterna magna 2–10 mm, diagnosable CNS abnormality risk is very low and further examinations unnecessary [13].

Targeted neurosonography should preferably be transvaginal; when impossible (breech presentation, twins), transabdominal high-frequency linear or microconvex probes (8–9 MHz) are used [14]. The posterior median plane, through posterior fontanelle or sagittal suture with beam approximately 90° to brainstem, best shows posterior fossa: vermis with fastigium, primary fissure (secondary late in pregnancy), lobules, triangular fourth ventricle, cisterna magna, midbrain, pons, medulla and tentorium; vermis-centred coronal planes and three-dimensional acquisition with multiplanar correlation are recommended [14]. Coronal imaging identifies fourth ventricular choroid plexus displaced “down and out” [67].

Fetal MRI complements neurosonography for unresolved specific questions and may replace it second-line if unavailable or inadequate when the operator has fetal MRI training; with adequate expert neurosonography, MRI is needed in only 7 to 15% (indirect attribution) [14]. ISUOG recommends MRI requests come from the targeted neurosonography specialist rather than directly from screening suspicion because inappropriate referrals increased “MRI-only” abnormalities and false-positive rates [13, 14]. The 2023 fetal MRI guideline considers cerebellar or vermian abnormalities an indication, including confirmation of no associated pathology in apparently isolated ultrasound findings, and recommends considering MRI whenever it may add information [15]. MRI before 18 weeks rarely adds to transvaginal ultrasound; usefulness grows after 22 weeks and detail is greatest at 26–32 weeks; where termination must be decided before 24 weeks, MRI before that limit may support decisions [15]. Non-contrast MRI at 1.5 T or 3 T has not been associated with fetal adverse effects at any gestational stage, with whole-body specific absorption rate limited to 2 W/kg [15]. Lyon emphasised fetal MRI could not analyse vermian fissuration and lobulation, the most prognostically useful postnatal parameters [42, 56].

5.3. Prenatal diagnostic accuracy

Prenatal DWM diagnosis is postnatally confirmed in variable proportions. In D'Antonio's meta-analysis (22 studies, 531 fetuses with ultrasound-isolated posterior fossa abnormalities), prenatal diagnosis was not confirmed in 28.2% (95% CI 8.5–53.9) of DWM, 32.4% (18.3–48.4) of VH, 9.8% (2.9–20.1) of BPC and 7.1% (2.3–14.5) of MCM [124]. In Bologna and Bari (105 fetuses, 2001–2010), ultrasound diagnosis was accurate in 88% of 65 confirmable cases and MRI added information in only 1 of 51 [29]. Recent Turkish series found ultrasound–MRI discordance up to 24.3%, predominantly DWM versus BPC [125], and moderate-to-good overall agreement (κ 0.640) [126]. Harper's series confirmed all DWM diagnoses postnatally but only half of “variants” [43]. VH diagnosed before 20 weeks should be reassessed because vermian development is incomplete [1, 124].

A deep-learning algorithm (AIRFRAME, 10 centres, 251 fetuses at 11–14 weeks) distinguished cystic posterior fossa or open spina bifida from normal fetuses with area under the curve 0.94 (95% CI 0.88–0.99), sensitivity 81% (25/31) and specificity 93% (42/45) in the test set; this remains a research tool without published prospective validation [127].

5.4. Postnatal clinical and laboratory assessment

Assessment starts with a three-generation pedigree, targeted consanguinity enquiry, prenatal exposure history and image review with a neuroradiologist [1, 41]. Determine whether abnormalities are limited to cerebellum or include cortex, whether hypoplasia affects only vermis or also hemispheres, and repeat MRI if primary hypoplasia versus atrophy is unclear [41]. Examination seeks macrocephaly (rare in cerebellar hypoplasia, suggesting SNX14 or PIGT) or microcephaly, tone and ataxia, muscle weakness (muscle-eye-brain disease, mitochondrial diseases), nystagmus and oculomotor apraxia (ciliopathies), tongue cysts and multiple oral frenula (orofaciodigital syndromes, Joubert), aniridia (Gillespie syndrome) and polydactyly [41].

Phenotype-directed investigations include full blood count (aplastic anaemia in Hoyeraal-Hreidarsson), liver tests (hepatic fibrosis in ciliopathies), creatine kinase (muscular dystrophies), renal function and ultrasound (Joubert), ophthalmology with electroretinography when indicated, 7-dehydrocholesterol (Smith-Lemli-Opitz), transferrin isoelectric focusing (congenital glycosylation disorders), plasma alkaline phosphatase (high or low in glycosylphosphatidylinositol anchor disorders), lactate and pyruvate, electromyography and mitochondrial investigations as suspected [41]. Echocardiography is recommended in associated DWM [1, 97]. For suspected 3C syndrome, initial assessment includes echocardiography, non-fasting lipid profile in older children, adolescents and adults, renal ultrasound, ophthalmology, brain MRI if not already performed, polysomnography with obesity and symptoms, and immunoglobulins with vaccine titres for recurrent bacterial infections [10].

5.5. Genetic tests: sequence, yield and limitations

Fetal DWM warrants offering karyotype or CMA and considering panel, exome or genome sequencing with congenital infection screening [1]. The 2022 International Society for Prenatal Diagnosis (ISPD) position considers prenatal exome or genome yield comparable and sometimes superior to karyotype with CMA, requiring standardised laboratory practice and detailed pre- and post-test counselling [128]; it updates the joint 2018 ISPD/Society for Maternal-Fetal Medicine (SMFM)/Perinatal Quality Foundation statement [129]. The American College of Medical Genetics and Genomics (ACMG) published fetal exome points to consider in 2020 [130]; the latter two documents' content was not read for this article. For DWM with other abnormalities, the 2026 cohort authors propose clinical exome plus CMA or genome alone even after a negative panel [12].

The diagnostic proportion in a referred cohort is not clinical test sensitivity: it depends on prior tests, trio proportion (35.2% in the 2026 cohort, whose yield is below trio yield) and reference-laboratory referral bias [12]. CMA yield was 14.6% in posterior fossa defects and 25% in DWM in studies cited by the 2026 cohort (indirect attribution) [12]. In a Chinese series of 74 postnatally confirmed posterior fossa abnormalities, no fetus with isolated abnormality or only additional CNS abnormalities had aneuploidy or pathogenic CNV [132], unlike the 2025 meta-analysis, demonstrating sample-size dependence.

Technical limitations should feature in counselling. Exome may miss CNVs, so CMA is requested before, after or simultaneously, or genome used [12]. Deep intronic variants may escape microarray and exome, as in DPH1 syndrome where only reanalysis with RNA sequencing identified the cause [66]. Parental mosaicism for a dominant variant may go undetected and changes recurrence risk [67]. In 3C syndrome, sequencing detects approximately 99% of WASHC5 variants in First Nations patients, but the proportion in other ethnicities is unknown and deletion/duplication data absent [10]. A negative result does not exclude a genetic cause, particularly because non-genetic prenatal factors and unidentified causes account for some cases [34].

Reports should identify gene, versioned reference transcript, HGVS variant, zygosity, ACMG and Association for Molecular Pathology (ACMG/AMP) classification and phenotype correlation. A VUS neither confirms nor excludes diagnosis [10]. A ZIC1 point variant should not be reported as a DWM cause because relationship evidence is limited [49].

5.6. Clinical criteria for syndromic entities

3C syndrome. No consensus criteria exist; Leonardi's minimum criteria (2001), derived from 28 literature patients, require all three: congenital heart disease other than isolated patent ductus arteriosus; DWM, vermian hypoplasia or enlarged cisterna magna; and cleft palate, ocular coloboma or four of six facial features (prominent occiput, prominent forehead, downslanting palpebral fissures, widely spaced eyes, depressed nasal bridge, micrognathia) [10]. These exclude molecularly confirmed patients without cerebellar or cardiac malformation [10]. The proposed molecular strategy sequences WASHC5 first in First Nations patients and girls, considers CCDC22 first in boys of other origins, uses multigene panels and, for atypical phenotypes, CMA and exome or genome [10].

PHACE syndrome. The 2016 consensus defines system-specific major and minor criteria [27].

Source: Garzon and colleagues, 2016 [27]. PHACE is definite with head haemangioma (including scalp) exceeding 5 cm diameter plus one major or two minor criteria, or neck, upper trunk or trunk and proximal upper-limb haemangioma plus two major criteria; possible with head haemangioma exceeding 5 cm plus one minor criterion, neck or trunk haemangioma plus one major or two minor criteria, or no haemangioma plus two major criteria [27]. All infants with extensive segmental facial or scalp haemangioma should be screened; in a prospective study, 31% with facial haemangioma of at least 22 cm² (approximately 5 × 4.5 cm) met criteria [27]. Screening includes eye- and midline-directed physical examination, echocardiography and MRI with and without gadolinium plus head, neck and aortic arch MR angiography [27].

5.7. Practical algorithm

The proposed pathway, based on cited guidelines and cohorts, has six steps. First, an abnormal posterior fossa on screening from 18 weeks prompts targeted neurosonography, classifying the abnormality (DWM, VH, BPC, MCM, arachnoid cyst, cerebellar hypoplasia) and seeking other CNS and extra-CNS abnormalities [13, 14]. Second, request fetal MRI as indicated by the neurosonography specialist, ideally after 20–22 weeks and within the legal decision timeframe [15]. Third, offer CMA (or karyotype for suspected common aneuploidy), followed or accompanied by exome or genome, particularly in DWM and VH, and congenital infection screening; genetic abnormality probability in isolated MCM is very low [1, 104, 128]. Fourth, confirm newborn classification by MRI using current criteria, assess vermian lobulation, brainstem and supratentorial abnormalities determining prognosis, and monitor hydrocephalus [3, 42, 56, 101]. Fifth, direct investigation by associated phenotype (section 4.4) and, if negative, request exome with CMA or genome [12]. Sixth, document non-genetic prenatal factors because they modify expected yield and recurrence risk [34].

6. Differential Diagnosis

6.1. Structural posterior fossa differential

The first differential is morphological, described in section 5.1: DWM, global or inferior VH, BPC, MCM, arachnoid cyst and cerebellar hypoplasia differ by vermian size and rotation, TVA, tela choroidea and choroid plexus position and fastigial angle [3]. Isolated rhombencephalosynapsis, with complete or partial fusion of cerebellar hemispheres, dentate nuclei and middle cerebellar peduncles and complete or partial vermian absence, has a small posterior fossa and approximately 100 published cases [1, 133]. Intraventricular or cerebellar haemorrhage and acquired cerebellar injury, particularly in premature infants, may simulate DWM, and structural phenotype informs aetiology only with signs of haemorrhage, inflammation or injury [3, 34]. In congenital Zika syndrome, posterior fossa fluid collection may represent enlarged cisterna magna or BPC, with hypoplastic cerebellum and brainstem [92].

6.2. Comparative table of genetic and syndromic entities

6.3. Main differential diagnoses

Joubert syndrome. The molar tooth sign — deep interpeduncular fossa, thick and elongated superior cerebellar peduncles and hypoplastic or aplastic superior vermis — results from the absence of normal decussation of the superior cerebellar peduncle fibres and is seen on axial sections at midbrain level [41, 111]. Prenatally, DWM, Poretti-Boltshauser syndrome and other vermian hypoplasias enter the differential diagnosis of Joubert syndrome, and VH with polydactyly or enlarged, cystic or hyperechogenic kidneys suggests Joubert [134]. In the prenatal history, ventriculomegaly and “Dandy-Walker variant” point towards Joubert or Meckel-Gruber [111]. In the Beijing series, exome sequencing diagnosed 83.33% (5/6) of fetuses with Joubert [131]. A fetus with suspected “Dandy-Walker variant” was diagnosed by exome as Joubert type 10 (OFD1 splicing variant) [115]. The birth prevalence of Joubert syndrome lies between 1 and 9 per 100,000 according to Orphanet [144].

Pontocerebellar hypoplasias. These are characterised by a small posterior fossa, hypoplasia of the pons and cerebellum, microcephaly, feeding difficulties and a neurodegenerative course, sometimes with spinal muscular atrophy-like weakness; they are autosomal recessive, except the CASK form, which is X-linked and more frequent in girls [41]. They are grouped with the non-progressive congenital cerebellar ataxias with intellectual disability (CAMRQ, including the VLDLR form) among the early-onset ataxias [41].

Dystroglycanopathies and other phenocopies. A 17-week Italian fetus with suspected recurrent familial DWM had homozygous FKTN NM_001079802.2:c.898G>A p.(Gly300Arg) and was reclassified as dystroglycanopathy (MDDGA4), changing recurrence risk to 25% [57, 95]. Tubulinopathies with cerebellar hypoplasia and brainstem dysplasia may also be labelled DWM [63].

3C syndrome versus 6p25 deletion. Both share intellectual impairment, DWM, hydrocephalus, heart disease and anterior chamber abnormality, with facial overlap; CMA and a different gestalt distinguish them [10]. Smith already noted 6p subtelomeric deletion–3C phenotypic overlap [58].

Rare Orphanet syndromes with DWM. Orphanet records few-case entities without recent descriptions, which should be recognised to avoid eponym-based diagnoses without molecular evidence: craniosynostosis–DWM–hydrocephalus syndrome (Braddock-Jones-Superneau; ORPHA:1538; OMIM 123155; autosomal dominant; sagittal synostosis, dolichocephaly, hypertelorism, micrognathia) [145]; DWM–postaxial polydactyly (Pierquin; ORPHA:1566; OMIM 220220; autosomal recessive; five cases, none newly described since 1999) [146]; dysmorphism–macrocephaly–myopia–DWM (ORPHA:1970; OMIM 220219; three cases, none newly described since 1989) [147]; glabellar capillary naevus–mega cisterna magna–hydrocephalus (ORPHA:2703; five cases, no descriptions since 1979) [148]; NPHP3 Meckel-like syndrome, formerly renal-hepatic-pancreatic dysplasia with Dandy-Walker cysts (ORPHA:3032; OMIM 267010; approximately 10 cases) [149]; partial callosal agenesis–VH with posterior fossa cysts (KPNA7; ORPHA:401959; severe global delay, refractory epilepsy) [150]; and microcephaly–callosal and vermian hypoplasia–dysmorphism–intellectual impairment (ORPHA:500159; OMIM 617751; autosomal dominant; four cases; RAC1 according to Orphanet) [151].

Other associations. DWM or posterior fossa abnormality is reported occasionally in Rubinstein-Taybi (with Chiari and syringomyelia), White-Sutton (POGZ), KBG, Sotos, Beckwith-Wiedemann (warranting CDKN1C testing with cleft palate, posterior fossa abnormalities, omphalocele or hypospadias), Pitt-Hopkins, Bohring-Opitz, Neu-Laxova, Pallister-Hall, Matthew-Wood, Wiedemann-Rautenstrauch, Yunis-Varón, otopalatodigital type 2, Jeune thoracic dysplasia, short-rib polydactyly, neurocutaneous melanosis, Kosaki, Peters plus, Marinesco-Sjögren, holoprosencephaly and cutis laxa [152–172]. Smith's pattern index lists DWM as frequent in 3C and Walker-Warburg and occasional in several others, including branchio-oculo-facial syndrome, warfarin embryopathy and laterality sequences [173]. In L1 syndrome (L1CAM), DWM enters the non-syndromic congenital hydrocephalus differential [174]. The Brazilian manual Síndromes Genéticas: Reconhecer para Tratar includes “Dandy-Walker syndrome” in its brain malformation table for neural tube defect differential diagnosis [175].

7. Treatments and Risk Management Strategies

7.1. General principles

No targeted drug treatment exists for DWM or any cystic posterior fossa malformation, and no orphan medicine was identified for these indications in consulted sources (the orphan designation database was not searched) [176]. Treatment is neurosurgical for hydrocephalus or mass effect and supportive for neurological, cardiac and sensory manifestations. Syndromic management follows the underlying syndrome: 3C and PHACE have published recommendations and dedicated subsections.

7.2. Hydrocephalus treatment in DWM

Hydrocephalus is the main surgical indication. In the 2022 series, 93% (40/43) of ventricular shunts seen on postnatal scans corresponded to DWM versus a minority of other posterior fossa abnormalities [3]. Options are ventriculoperitoneal shunt (VPS), cystoperitoneal shunt (CPS), combined ventriculocystoperitoneal shunt (VCPS), endoscopic third ventriculostomy (ETV), with or without aqueductal stent or fenestration, and cyst membrane excision through craniectomy [16, 177]. No randomised trials exist; evidence comes from retrospective single-centre series, predominantly India and China, using pre-2022 DWM criteria.

Mohanty and colleagues proposed choosing by aqueductal patency: with a patent aqueduct, endoscopy (ETV) is an acceptable shunt alternative; with aqueductal stenosis, an endoscopic stent between third ventricle and cyst avoids dual shunting [16]. In both Indian series, single-compartment shunts (ventricular or cystic alone) frequently required a second procedure in the other compartment [16, 177]. The 2026 ETV series abstract gives no success rate [179].

In the US paediatric inpatient database, surgical CSF drainage was associated with 44% lower mortality; this administrative-data association, incompletely adjusted for severity, does not demonstrate causation [99].

Congress of Neurological Surgeons (CNS) paediatric hydrocephalus guidelines, updated in 2020 from 2014 with 41 new studies, contain no DWM-specific recommendations; new recommendations applicable to any shunted child include antibiotic-impregnated shunt catheters to reduce infection (level I) and neuroendoscopic lavage as a safe option for intraventricular clots (level III) [17]. The guideline section on ETV versus shunt choice was not read for this article.

For posterior fossa cyst or DWM without hydrocephalus, consulted sources define no surgical indication; in PHACE, consensus recommends neurosurgical assessment for “Dandy-Walker complex” with or without hydrocephalus because rarely the cyst may enlarge or cause hydrocephalus [27]. In 3C syndrome, shunting was rarely required [58]. In Costello, progressive posterior fossa crowding from bony hypoplasia and cerebellar overgrowth may require shunting, in a small rather than cystic posterior fossa [140].

7.3. Rehabilitation and developmental intervention

Early developmental intervention, physiotherapy, occupational therapy, speech and feeding therapy and augmentative and alternative communication, which does not prevent speech acquisition, are recommended in 3C and apply to any child with DWM and developmental delay [10]. Seizures follow general treatment rules; consulted sources identify no preferred DWM antiseizure drug. Neuropsychological assessment after 12 months and at school entry and individualised educational support are recommended in 3C [10].

7.4. Management of 3C syndrome (Ritscher-Schinzel)

No specific investigational therapies exist for 3C [10].

7.5. PHACE syndrome management

The 2016 consensus, developed by 28 physicians from 14 institutions and nine paediatric specialties with parental participation, rests on expert opinion, case reports and observational studies without randomised trials; when controversial, authors chose the more conservative option [27].

AIS risk stratification by baseline MR angiography [27]. Low risk includes common population arterial variants or those without haemodynamic impact (persistent embryonic arteries, abnormal origin or course, circle of Willis variants), requiring no surveillance imaging. Intermediate risk includes non-stenotic dysgenesis (ectatic or segmentally dilated arteries) and narrowing or occlusion proximal to the circle of Willis with adequate collaterals; paediatric neurology referral and later elective imaging, preferably once anaesthesia is unnecessary, are recommended. High risk includes greater than 25% narrowing or occlusion of major cerebral vessels at or above the circle of Willis with “isolated” circulation, multiple tandem stenoses, cerebrovascular stenosis with coarctation, or chronic or silent parenchymal ischaemia; paediatric neurology referral, imaging at 6 months and 1 year and subsequent individually determined intervals are recommended. At intermediate and high risk, avoid contact sports and extreme neck-position activities. The panel defined these categories without empirical validation [27].

Acetylsalicylic acid. High-risk patients should be considered for acetylsalicylic acid prophylaxis at 4–5 mg/kg/day, up to 81 mg/day; this is an off-label consensus recommendation without efficacy evidence, and long-term impact is unknown [27]. Progressive vascular abnormalities such as moyamoya-type vasculopathy warrant a tertiary paediatric vascular neurology and neurosurgery centre [27].

Headache. New headache requires investigating secondary causes including vasculopathy and ischaemia, even with normal baseline MRI; arterial abnormalities relatively contraindicate migraine vasoconstrictors: triptans, dihydroergotamine and ergotamine tartrate [27].

Heart, hearing, feeding, endocrinology and teeth. Intracardiac and aortic arch abnormalities require urgent paediatric cardiology assessment and cardiac MRI if arch abnormality suspected; non-obstructive arch abnormalities require annual echocardiography because rarely progressive coarctation narrowing or aneurysmal dilation occurs; advanced neurophysiological monitoring is recommended during cardiac surgery [27]. All patients need hearing screening neonatally or at diagnosis, with at least one reassessment in high-risk patients despite normal screening; posterior fossa malformation, lip, oropharyngeal or airway haemangioma, hearing loss or cardiac surgery warrants speech and language assessment by 24 months; neonatal hypoglycaemia may indicate hypopituitarism; intraoral haemangioma warrants paediatric dentistry by the first year [27]. Neonatal thyroid screening may be normal before later hypothyroidism [27].

7.6. Oral propranolol for infantile haemangioma in PHACE

Propranolol is a β-adrenoceptor blocker. Paediatric oral solution (Hemangeol® in the US, Hemangiol® in the EU) contains 4.28 mg/mL propranolol hydrochloride, equivalent to 3.75 mg/mL propranolol base, indicated for proliferating infantile haemangioma requiring systemic therapy, initiated between 5 weeks and 5 months [180, 181]. PHACE consensus considers it first-line for haemangioma requiring systemic treatment but acknowledges controversy with arteriopathy and AIS risk [27].

Approved dosing. In the label approved by the US Food and Drug Administration (FDA), the starting dose is 0.15 mL/kg (0.6 mg/kg, expressed as hydrochloride) twice daily, at least 9 hours apart; after one week it is increased to 0.3 mL/kg (1.1 mg/kg) twice daily and, after two weeks, to the maintenance dose of 0.4 mL/kg (1.7 mg/kg) twice daily, maintained for 6 months, with adjustment to weight; the maintenance dose is the final dose of the regimen, with no higher maximum dose defined in the label, and safety and efficacy have not been established beyond 1 year of age [180]. In the summary of the European public assessment report (EPAR) of the European Medicines Agency (EMA), the starting dose is 0.5 mg/kg twice daily, increased progressively to the maintenance dose of 1.5 mg/kg twice daily (3 mg/kg/day, expressed as propranolol base), for 6 months, with no higher maximum dose defined in the source [181]. The administered volumes are the same; the numerical difference arises because the United States expresses the dose as salt and the European Union as base. The dose is given during or immediately after a feed, omitted if the child does not feed or vomits, and heart rate and blood pressure are monitored for 2 hours after initiation and after each increase [180]. Treatment may be restarted if the haemangioma recurs [180].

Adjustment in PHACE. The 2016 consensus recommends, in patients with PHACE, target doses lower than the usual dose of 2 mg/kg/day and/or slower titration, divided into three daily doses to reduce plasma peaks, with monitoring; in life- or function-threatening haemangiomas (visual axis obstruction, airway involvement), propranolol may be started before imaging results are available, informing the parents of the theoretical risk [27]. This regimen differs from the label in two respects: the label specifies two daily doses and a maintenance dose of 3.4 mg/kg/day (hydrochloride), higher than the 2 mg/kg/day that the consensus designates as usual; division into three doses is therefore an adaptation outside the approved regimen. In PHACE, the reference is the consensus regimen, and the label serves for comparison; the consensus does not set a numerical maximum dose and allows the dose to be increased according to clinical indication [27, 180].

Safety. The US label specifically warns that lowering blood pressure may increase stroke risk in PHACE with severe cerebrovascular abnormalities, and infants with extensive facial haemangioma require arteriopathy investigation before treatment [180]. Siegel reported AIS in two PHACE patients on oral β-blockers, both also receiving oral corticosteroids with severe arteriopathy; Metry treated 32 PHACE infants with arterial abnormalities, seven high-risk, and most tolerated treatment (consensus-cited data) [27]. Other labelled adverse effects include hypoglycaemia, potentially presenting as seizures, lethargy or coma and increased by fasting, infections, vomiting and corticosteroids; bradycardia and hypotension (mean reduction approximately 7 beats/min in trials; stop below 80 beats/min or systolic pressure below 50 mmHg); bronchospasm requiring interruption during lower respiratory infection with dyspnoea and wheeze; worsening heart failure; and reduced adrenaline response in anaphylaxis [180]. Contraindications are corrected age below 5 weeks in premature infants, weight below 2 kg, hypersensitivity, asthma or prior bronchospasm, heart rate below 80/min, greater-than-first-degree atrioventricular block, decompensated heart failure, blood pressure below 50/30 mmHg and phaeochromocytoma [180].

7.7. Comparative regulatory status

No medicine is approved for DWM, other posterior fossa malformations, 3C, Pettigrew or DWM with occipital cephalocele.

7.8. Clinical trials and registered studies

The Hemangeol® trial excluded life/function-threatening haemangiomas and did not analyse PHACE separately; efficacy does not inform stroke risk in that population, and Metry's series is observational and uncontrolled [27, 180]. Absolute reduction in non-resolution (from 96% placebo to 40% approved dose) is decision-relevant, and no direct comparison exists with 2 mg/kg/day or three-dose administration. For DWM, ClinicalTrials.gov identified only observational studies; this negative search does not establish absence of trials elsewhere [176].

7.9. Developments in the last 12 months

Between October 2025 and October 2026 there was no regulatory decision or interventional trial in DWM. The publications of the period are all observational studies or case reports: the clinical exome cohort in associated DWM, with a yield of 35.2% and nine phenotypic expansions (published in June 2026) [12]; the Chinese cohort of 487 fetuses with broadly defined “DWM” [31]; tubulin variants in Japanese patients [63]; WDR91 as a new candidate gene for hydrocephalus with DWM [64]; the dual CACNA1I/LRP5 diagnosis [65]; the radiopathological correlation of the tela choroidea [47]; the deep-learning algorithm for the first trimester, still without prospective validation [127]; the VPS/CPS comparison and volumetric analysis after ETV [178, 179]; two Turkish cohorts on ultrasound–MRI agreement [125, 126]; the prenatal diagnosis of KID syndrome with DWM [67]; and the series of DWM with occipital encephalocele [110]. The meta-analysis by Parisi and colleagues, published in August 2025, is the most recent synthesis on the outcome of isolated posterior fossa anomalies [104]. The literature search carried out for this article found no update of the ISUOG fetal CNS guidelines after 2021 and no posterior-fossa-specific consensus published between 2024 and 2026, which does not prove that none exists.

7.10. Agents to avoid, pregnancy, perioperative care and transition

Primary prevention. DWM-associated teratogens — warfarin, particularly at 14–20 weeks, and isotretinoin or other retinoids — should be avoided or replaced during pregnancy [89–91].

Agents to avoid in specific situations. In PHACE with arteriopathy, triptans, dihydroergotamine and ergotamine are relatively contraindicated, and propranolol requires prior vascular assessment, lower doses and monitoring [27, 180].

Pregnancy with an affected fetus. Continuing pregnancy depends on abnormality classification, associated abnormalities and genetic results; in Europe, 56.5% of DWM-diagnosed pregnancies ended in medical termination [11]. With legal gestational limits, fetal MRI may be brought forward before 24 weeks [15]. Counselling by an experienced subspecialist within a multidisciplinary obstetric, neuroradiological, paediatric neurological and genetics team is recommended [15]. Consulted sources do not describe delivery management for DWM fetuses or pregnancy in women with DWM.

Perioperative care. Shunted children should receive antibiotic-impregnated catheters [17]. In PHACE, aortic arch surgery requires multimodal preoperative arterial anatomy assessment and advanced neurophysiological monitoring; families express concern over repeated MRI anaesthesia, and consensus proposes infant feeding and wrapping techniques to avoid sedation where local expertise exists [27].

Transition to adulthood. Consulted sources describe no DWM transition programmes. In 3C, progressive obesity, OSAS and hypercholesterolaemia dominate adult issues [10]; in PHACE, patients dependent on one anterior artery or with marked tortuosity should be informed of increased adult thrombosis, aneurysm or traumatic injury risk [27].

7.11. Guideline recommendations and differences

The 2020/2021 ISUOG and 2023 fetal MRI guidelines agree targeted neurosonography is second-line and MRI complements unresolved questions [13–15]. Emphasis differs: neurosonography guidelines discourage direct MRI requests from screening suspicion, whereas MRI guidance allows MRI to confirm no associated pathology in apparently isolated cerebellar or vermian abnormalities [13, 15]. In prenatal genetics, 2022 ISPD considers exome or genome yield comparable or sometimes superior to karyotype with CMA, whereas Chinese posterior fossa series recommend CNV first for isolated forms and sequential approaches for associated forms [128, 131]. In PHACE, expert consensus differs from propranolol labels in usual dose and administration frequency [27, 180]. For hydrocephalus, CNS guidance does not distinguish DWM, and surgical series do not permit preference based on comparative evidence [16, 17].

8. Reproductive Options and Family Counselling

8.1. Scenario-specific recurrence risks

Recurrence risk depends entirely on cause, and counselling becomes definitive only after neuroradiological classification, genetic investigation and documentation of non-genetic prenatal factors [1, 34, 41].

Non-genetic prenatal factors (extreme prematurity, twinning, cerebellar haemorrhage) occurred in 47% (30/64) of genetically undiagnosed patients in the 2019 cohort and reduced exome yield (9% with a risk factor versus 49% without), influencing recurrence risk and prognosis [34]. Monozygotic DWM-discordant twins demonstrate neither genetics nor a single risk factor explains all cases [34].

8.2. Cascade investigation and carrier detection

In autosomal recessive disease, parents are asymptomatic obligate carriers and parental siblings have a 50% carrier probability; carrier detection requires known patient variants [10]. In northern Manitoba and north-western Ontario First Nations, with approximately 1:9 WASHC5 c.3335+2T>A carrier frequency, targeted variant testing is appropriate [10, 39]. In X-linked forms, maternal aunts and other maternal-line relatives may carry variants [10]. In incompletely penetrant dominant forms such as NID1, imaging and testing apparently unaffected relatives identify mildly affected carriers [25]. In 6p25 deletions, carrier ophthalmological screening matters because of glaucoma risk [20, 109].

No offspring are known in 3C patients [10]. Consulted sources do not specifically address testing asymptomatic minors; in 6p25 deletions and FOXC1 variants, identifying a carrier relative has immediate clinical consequences because glaucoma surveillance should begin early and continue lifelong [20].

8.3. Prenatal diagnosis and preimplantation genetic testing

With a known familial variant, prenatal diagnosis through chorionic villus sampling or amniocentesis and preimplantation genetic testing (PGT) are possible [10, 41]. In WASHC5 3C, nuchal translucency is increased and first-trimester ultrasound targeting heart disease and nuchal translucency is recommended in at-risk pregnancies; this marker is unestablished for CCDC22 [10]. With unknown cause, detailed ultrasound is frequently offered in subsequent pregnancies, but early ultrasound cerebellar hypoplasia diagnosis is unreliable and DWM should not be diagnosed before 18 weeks, limitations parents should understand [1, 41]. Preconception planning and DNA banking if molecular diagnosis is unconfirmed are recommended [10].

Prenatal exome or genome requires pre-test counselling on expected yield, uncertain and secondary findings and expert post-test counselling [128]. In the KID-with-DWM case in section 10, identifying parental mosaicism changed recurrence risk to up to 50% and enabled offering prenatal diagnosis subsequently [67].

8.4. Counselling after prenatal diagnosis

Counselling should explain DWM, VH, BPC and MCM distinctions and postnatal diagnostic revision probability (28.2% of prenatal DWM and 32.4% of VH unconfirmed) [124]; associated abnormalities' prognostic weight [104, 106]; expected genetic yield and limitations [12, 104]; postnatal hydrocephalus and surgery probability despite normal prenatal ventricles [56]; and psychological support, since parental stress remained elevated even with normal child outcomes [107].

9. Special Considerations: Population Diversity and Epidemiology

9.1. Prevalence and what each figure measures

EUROCAT is the only European population-based estimate; total versus live-birth prevalence differences reflect termination (56.5%) and fetal death (4.3%) proportions [11]. Orphanet's estimate is expert-derived and should not be presented as registry results [9]. Hospital cohorts and admission data do not estimate prevalence. Portugal's registry participated in EUROCAT, but country-specific results are absent from the consulted abstract [11].

9.2. Geography, ancestry and founder effect

In the US, NBDPS observed increased DWM risk in offspring of non-Hispanic black mothers (aOR 2.0) [93]; the significance of this association in a 160-case case-control study remains unclear.

The best-documented founder effect is 3C in northern Manitoba and north-western Ontario First Nations, Canada: all tested patients were homozygous for WASHC5 c.3335+2T>A, cohort carrier frequency approximately 1:9, and WASHC5 variants explain over 98% of this population's cases, with proportions elsewhere unknown [10, 39]. Highly consanguineous populations such as Riyadh predominantly have autosomal recessive monogenic causes [69]. In a Yakut cohort, NBAS deficiency was associated with DWM in one of 24 [82].

Recent prenatal cohorts come predominantly from Europe (Italy, Switzerland, UK, France) [2, 29, 44, 56], the US [12, 97, 106], China [31, 87, 131, 132], Turkey [125, 126], India [183] and Saudi Arabia [69]. In India's prospective 76-case posterior fossa cohort, DWM represented 50%, diagnosis before 20 weeks occurred in only 15.8%, associated abnormalities in 46.1% and survival at 2 years was 46.1% [183]; in Izmir (93 confirmed abnormalities), MCM represented 54.8%, cerebellar hypoplasia 15.1% and DWM 10.8% [126]. Differences reflect referral criteria and terminology rather than demonstrated incidence differences.

Brazilian data include an autosomal dominant DWM-with-occipital-cephalocele family without 2q36.1 linkage [7], Brazilian SPG8 patients (WASHC5 allelic disease) [59], mention of “Dandy-Walker syndrome” in a Brazilian neural tube defect differential [175] and congenital Zika syndrome with posterior fossa imaging entering BPC/MCM differential [92]; none gives national prevalence. Consulted sources provide no specific Portuguese data. This absence does not demonstrate absence of published data.

9.3. Special populations

Twins. Multiple pregnancy was associated with DWM (aOR 3.9) [93], and the 2019 cohort included six DWM-discordant twin pairs, four monozygotic [34]. Monochorionic twins warrant targeted neurosonography [13].

Premature infants. Those born before 28 weeks risk cerebellar injury, and cerebellar haemorrhage may evolve towards DWM-like appearances; all four born at 22–27 weeks in the 2019 cohort had cerebellar hypoplasia [34].

Pregnancy after infertility treatment. Infertility history was associated with DWM (aOR 2.4) [93].

Advanced maternal age. Associated with chromosomal abnormalities in fetuses with posterior fossa abnormalities [31].

9.4. European Reference Networks and patient associations

ERN ITHACA (rare congenital malformations and rare intellectual disability) is the relevant European network, with working groups including fetal medicine and pathology, neurodevelopmental disorders, spina bifida and other dysraphisms [18]. Identified patient associations are Dandy-Walker Alliance (US; https://www.dandy-walker.org) [34, 102], Hydrocephalus Association (US) [184] and International Federation for Spina Bifida and Hydrocephalus (IF SBH) [185]. For 3C, GeneReviews lists MyGene2, Canadian Organization for Rare Disorders and National Organization for Rare Disorders [10]; PHACE consensus lists PHACE Family Community [27]. Oxford Desk Reference recommends Contact a Family (UK) for families with cerebellar abnormalities [41]. Specific Portuguese or Brazilian associations were not searched.

10. Illustrative Clinical Case

Bourdil and Georgia Blume, obstetricians at Swiss hospitals (Graubünden Cantonal Hospital, Chur, and University Hospital Basel), published in 2026 the third prenatally diagnosed KID case and first where DWM detection led to prenatal molecular diagnosis [67].

Presentation. Routine second-trimester anomaly ultrasound (exact gestation unspecified) showed abnormal posterior fossa: the axial transcerebellar plane showed a cystic space between cerebellar hemispheres, suggesting cranially rotated or hypoplastic vermis (article Figure 1, https://pmc.ncbi.nlm.nih.gov/articles/PMC13353187/figure/fig-0001/) [67]. Differential diagnoses were DWM, BPC and VH, and acoustic windows allowed only axial imaging [67].

Neurosonography and MRI. Multiplanar correlation of a three-dimensional volume showed, sagittally, hypoplastic cranially rotated vermis, wide pontovermian angle and blunt fastigial recess, and coronally, echogenic fourth ventricular choroid plexus displaced laterally and caudally outside the ventricle — Paladini and Volpe's DWM-typical “down and out” position (Figure 2, https://pmc.ncbi.nlm.nih.gov/articles/PMC13353187/figure/fig-0002/) [67]. T2 fetal MRI confirmed vermian hypoplasia, wide pontovermian angle, blunt fastigial recess and “tail sign” (Figure 3, https://pmc.ncbi.nlm.nih.gov/articles/PMC13353187/figure/fig-0003/) [67]. Findings match 2022 criteria [3].

Genetic diagnosis. Amniocentesis and exome sequencing identified heterozygous GJB2 c.148G>A p.(Asp50Asn), historically D50N, associated with KID [67]. MANE normalisation gives NM_004004.6:c.148G>A p.(Asp50Asn) (GRCh38 NC_000013.11:g.20189434C>T), pathogenic in ClinVar (VCV000017020; criteria supplied, multiple submitters, no conflicts) [57, 94]. Mosaicism termed “uniparental” by authors was also detected, referring in context to mosaicism in one parent [67].

Course. The patient could not provide written publication consent, so pregnancy management was withheld [67]. Postnatal examination showed generalised erythrokeratoderma compatible with KID [67]. Parental mosaicism led to an estimated recurrence risk up to 50% and recommendation for prenatal diagnostic counselling in future pregnancies [67].

Interpretation. KID syndrome results from dominant gain-of-function variants in the first extracellular loop of connexin 26, which make the hemichannels permeable; D50N accounts for about 80% of cases, and the variants A88V (historical notation, = NM_004004.6:c.263C>T p.(Ala88Val)) and G45E (historical notation, = NM_004004.6:c.134G>A p.(Gly45Glu)) are frequently lethal in infancy through infection [67]. Todt and colleagues had described DWM in eight of nine patients with KID and D50N, all with minimal or absent neurological abnormalities, which contrasts with neurodevelopmental delay in about 45% of isolated DWM in the 2025 meta-analysis [67, 104]. The authors advocate a low threshold for offering genetic testing, including exome, in apparently isolated fetal DWM [67].

The case illustrates four points: sagittal/coronal planes and three-dimensional volume value when axial imaging cannot distinguish DWM, BPC and VH; ultrasound–2022 criteria correspondence; exome yield in apparently isolated DWM; and parental investigation importance because mosaicism transforms an apparently de novo case into high recurrence risk. Specific pregnancy management was unpublished and cannot serve as a model.

11. Prognosis and Long-Term Follow-up

11.1. Prognosis following prenatal diagnosis of apparently isolated abnormalities

Sources: meta-analysis of 31 studies and 676 fetuses searching through September 2024 [104], and 16-study meta-analysis [186]. Confidence intervals are wide, neurodevelopmental instruments unstandardised and follow-up variable [104]. In the 2016 meta-analysis, individual study results ranged 0–100% for DWM and VH [186]. In isolated BPC, 42.7% resolved in utero [104].

Single-centre series agree. In Bologna and Bari, associated or chromosomal abnormalities affected 43% of posterior fossa abnormality fetuses; over 90% of BPC/MCM survivors without other abnormalities developed normally at 1–5 years versus only 50% of isolated DWM/VH [29]. In Cincinnati, isolated abnormalities had better outcomes, and additional intracranial, extracranial and brainstem abnormalities predicted poor outcome [106]. An English series found poor “Dandy-Walker complex” prognosis in 54% of isolated and 84% of non-isolated cases [44]. In Bern, 6 of 11 liveborn confirmed DWM children developed normally [2]. In Zurich, five survivors among ten prenatal DWM cases ranged from minor defects to severe disability [187]. In a 15-fetus prenatal series, 80% of survivors followed to 4 years had neurodevelopmental delay [1, 96]. Among 24 North Carolina “Dandy-Walker variant” children, 11 of 21 with follow-up had delay but 5 of 6 isolated cases developed normally [103]. In a Turkish cohort of 115 fetuses, survival was 89.2% and delay 15.2% in simple abnormalities, with worse outcomes in complex cases [125].

11.2. Postnatal prognostic determinants

Demonstrated prognostic factors are vermian lobulation (normal fissures, lobes and fastigium associated with normal Necker development), supratentorial abnormalities (particularly callosal agenesis), severe brainstem malformation (tegmental dysplasia), and extra-CNS and chromosomal abnormalities [42, 43, 98, 100, 101]. Treated hydrocephalus did not correlate with intellectual outcome at Necker [42]. In the 2019 genetic cohort, DWM had less intellectual impairment than cerebellar hypoplasia (54% versus 84%) [34]. These series include neurosurgically treated patients; no untreated DWM-with-hydrocephalus natural history data exist in consulted sources.

Syndromic prognosis follows the syndrome: most molecular-cohort 3C patients acquire walking and useful speech with progressive adult obesity, whereas premolecular literature reported half dying before 4 years (section 3.8) [10, 58]; Pettigrew spasticity and basal ganglia mineralisation may progress [24]; reported NID1 DWM-with-occipital-cephalocele carriers developed normally [25]; PHACE long-term morbidity depends predominantly on arteriopathy [27].

11.3. Surveillance

No consulted source defines isolated-DWM-specific surveillance intervals. The table combines syndromic guidelines and consensus recommendations with authors' DWM/VH recommendations.

In Pettigrew, normal early MRI does not exclude basal ganglia mineralisation appearing in childhood; sources define no repeat imaging interval [24]. Shunt surveillance follows general paediatric hydrocephalus rules [17].

12. Summary and Final Considerations

Dandy-Walker malformation is a neuroradiological phenotype rather than an aetiological diagnosis. Current definition rests on inferior-predominant vermian hypoplasia, inferolateral tela choroidea and choroid plexus displacement, “tail sign”, increased tegmentovermian angle and obtuse fastigial recess; posterior fossa size and torcular position are no longer criteria, and hydrocephalus, present in approximately 80%, is a complication rather than criterion, contrary to Orphanet's definition [3, 9, 12]. “Dandy-Walker variant” should be abandoned for the precise designation: vermian hypoplasia, Blake's pouch cyst or mega cisterna magna [2, 3].

Diagnosis is usually prenatal after 18 weeks through targeted neurosonography, supplemented by fetal MRI when the specialist considers necessary [1, 13–15]. Approximately one-quarter to one-third of prenatal DWM/VH diagnoses are unconfirmed postnatally, and older “Dandy-Walker complex” series should be read with this limitation [3, 124]. Genetic investigation includes karyotype or CMA and exome or genome; even in apparently isolated DWM, approximately one in six fetuses has an identifiable CNV or pathogenic variant, and associated-DWM exome yields approximately one-third [12, 104]. Direct-evidence genes — contiguous ZIC1–ZIC4 deletion at 3q24, FOXC1 dosage alteration at 6p25.3 and NID1/LAMC1 in dominant occipital-cephalocele disease — explain a minority; most molecular diagnoses involve general neurodevelopmental genes, and a ZIC1 point variant should not be interpreted as DWM-causing [4–6, 34, 49]. Non-genetic prenatal factors — prematurity, twinning, cerebellar haemorrhage — occur in a substantial subset and change both expected yield and counselling [34].

Among syndromic forms, Ritscher-Schinzel 3C combines DWM, heart disease and characteristic face, has a Canadian First Nations founder effect and requires ophthalmological, lipid and weight surveillance; high premolecular mortality does not represent the current molecular cohort [10, 58]. 6p25 deletion shares DWM and heart disease but is marked by Axenfeld-Rieger abnormality and glaucoma risk requiring lifelong ophthalmology [20, 21]. Pettigrew is X-linked and recognised by progressive basal ganglia mineralisation [24]. In PHACE, posterior fossa abnormality is a major criterion and cervicocephalic arteriopathy the main risk, determining propranolol use, acetylsalicylic acid prophylaxis and angiographic surveillance [27, 180].

DWM treatment is neurosurgical and supportive. No targeted drugs or interventional trials exist, and ventriculoperitoneal versus cystoperitoneal shunt or endoscopic ventriculostomy choice rests on retrospective series with aqueductal patency a practical criterion [16, 176, 177]. Intellectual prognosis depends on vermian lobulation, supratentorial abnormalities, brainstem involvement severity and extra-CNS abnormalities rather than treated hydrocephalus; half of isolated-DWM children may develop normally, while isolated BPC and MCM overwhelmingly have normal outcomes [42, 100, 101, 104]. Recurrence ranges from 1–5% in sporadic disease to 25 or 50% in monogenic forms including parental mosaicism, making aetiological diagnosis the basis of reproductive counselling [37, 41, 67].

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