Congenital Tracheal Stenosis and Tracheobronchial Anomalies

Tracheal stenosis due to complete cartilaginous rings and the ring-sling complex, tracheal cartilaginous sleeve of the syndromic craniosynostoses, tracheal agenesis and atresia, and the genetic syndromes in which these anomalies occur.

Literature and regulatory information updated: 31 October 2026.

0. Initial Reference Table

1. Introduction

1.1. Definition and scope

Congenital tracheal stenosis is a fixed narrowing of the tracheal lumen present from birth. Orphanet defines the main entity as the malformation in which the narrowing is due mainly to complete tracheal cartilaginous rings and absence of the membranous trachea, with consequent respiratory distress [1]. In the normal trachea, the cartilaginous rings are «C»-shaped, open dorsally, and their ends are joined by the trachealis muscle and the posterior membranous wall, which allows the airway to distend with coughing and to keep pace with growth. In complete rings, the cartilage forms a closed «O» ring, the membranous wall is missing and the affected segment behaves like a rigid tube of reduced calibre [2, 4]. In 148 children operated on in Cincinnati between 2001 and 2018, the aetiology was complete rings in 90.5%, congenital absence of cartilage in 8.8% and sleeve trachea in 0.7%, which shows that «congenital tracheal stenosis» and «complete tracheal rings» largely overlap without being synonyms [24].

This article covers the class of congenital structural anomalies of the trachea with genetic relevance: stenosis due to complete rings, isolated or part of the ring-sling complex; the tracheal cartilaginous sleeve of the craniosynostoses linked to FGFR2, FGFR3 and TWIST1; tracheal agenesis and atresia; and the syndromes in which these anomalies occur more frequently than in the general population, such as trisomy 21, 22q11.2 deletion, Mowat-Wilson syndrome, Myhre syndrome and geleophysic dysplasia. Congenital tracheomalacia, laryngotracheo-oesophageal cleft and extrinsic vascular compression are included as differential diagnoses. The VACTERL association, 22q11.2 deletion syndrome, the Crouzon and Apert craniosynostoses, Down syndrome and Pallister-Hall syndrome are dealt with here only insofar as the trachea is concerned.

1.2. Historical milestones

The first clinical classification of congenital tracheal stenosis is due to Cantrell and Guild, in 1964, who distinguished three morphological patterns: generalised stenosis, funnel stenosis and segmental stenosis [32, 38]. In 1984, Berdon and colleagues described five patients with a retrotracheal left pulmonary artery sling and showed that the high mortality of this vascular anomaly was due mainly to the coexisting long tracheal stenosis due to complete rings, whose length far exceeded the zone of contact with the vessel; the imaging findings included a low carina and horizontal main bronchi of equal length, and they proposed the term «ring-sling complex» so that clinical attention would be directed to the tracheal malformation, which at that time had no satisfactory surgical treatment [3].

Surgery evolved in phases. Pericardial patch tracheoplasty, introduced by Idriss in 1984, opened the modern era of repair, but was associated with frequent formation of granulation tissue and higher mortality than later techniques; it was followed by tracheal homograft (Herberhold, 1981, popularised by Elliott and Jacobs in the 1990s, with a mortality of 17% in a series of 24 children) and tracheal autograft (Backer and Mavroudis, 1998) [32]. In 1989, Tsang, Murday, Gillbe and Goldstraw described slide tracheoplasty in two infants with funnel trachea, demonstrating that the lesion was operable in infancy [39]. Grillo and colleagues popularised the technique and showed, in 11 patients at Massachusetts General Hospital, satisfactory growth of the repaired segment over 1.5 to 7.75 years, with the advantage of reconstructing the airway with native tracheal tissue lined by normal epithelium [40]. In Lausanne, Lang, Hurni and Monnier applied it in 1999 with simultaneous correction of severe cardiovascular malformations in a single operation [41]. At Great Ormond Street Hospital (GOSH), the creation of a multidisciplinary tracheal team in 2000 and a policy of primary slide tracheoplasty reduced early mortality, which was 67% with simple non-suspended patch and 50% with autograft, to 13% with slide, and reduced costs and days of hospital stay [42].

Tracheal agenesis was first described by Payne in 1900 [8]. Floyd, Campbell and Dominy proposed in 1962 the three-type classification that is still the most widely used [8, 43], and Faro and colleagues proposed in 1979 a seven-type classification based on 38 published cases and two patients of their own, noting that temporary survival depended on ventilation through the oesophagus [44].

The tracheal cartilaginous sleeve was initially recognised in isolated cases of syndromic craniosynostosis: Stone and colleagues described in 1990 an infant with Pfeiffer syndrome and a trachea of solid cartilage without rings, a finding previously recorded in a patient with Crouzon syndrome [45]. In 2017, Wenger and colleagues estimated its prevalence in a regional cohort for the first time and identified a genotype-phenotype correlation with the FGFR2 p.Trp290Cys variant [5].

1.3. Nomenclature, classifications and corrections

OMIM entry 603569, «Tracheobronchial stenosis, congenital», created in 1999, has no associated gene and brings together the observation of concordant monozygotic female twins, severe stenosis in children of diabetic mothers and stenosis induced in lambs by maternal ingestion of Veratrum californicum [10]. OMIM entry 601427 describes a rare association, observed in two children, of anterior segment dysgenesis of the eye, cerebellar hypoplasia, congenital hypothyroidism and tracheal stenosis [46]. The former designation LAPS (laryngotracheal stenosis, arthropathy, prognathism and short stature) has fallen out of use since it was shown to be Myhre syndrome, with variants in the same SMAD4 codons [15, 47].

Several classifications coexist for stenosis due to complete rings. That of Cantrell and Guild is morphological (generalised, funnel, segmental) [32, 38]. The practical distinction between short and long stenosis uses a threshold of about 30% of tracheal length or 6 to 8 rings [32]. Speggiorin and colleagues, at GOSH, added bronchial arborisation in 2012, with four types (normal tree, right upper lobe tracheal bronchus, trifurcating carina and unilateral bronchial and pulmonary agenesis), each subdivided into tracheal stenosis, above the carina, or tracheobronchial stenosis, below it [30]. The Wells classification, used in the ring-sling complex, separates type 1, with a normal bronchial tree, from type 2, with aberrant tracheobronchial patterns, and subtype 2B groups the patients with more malacia and restenosis [48]. For tracheal agenesis, the correspondence between the Floyd and Faro systems is described in section 3 [8].

2. Molecular Genetics and Pathophysiology

2.1. Development of the trachea

The laryngotracheal groove appears in the proximal foregut during the third week of gestation and progresses caudally, giving rise to two primordial buds that will form the bronchi and lungs; complete separation of the trachea and oesophagus is concluded by the sixth week [8]. OMIM places the origin of tracheobronchial malformations in a defect or arrest of foregut development at embryonic stages 13 to 15, between the fourth and sixth weeks [10]. After separation, the tracheal tube elongates, the epithelium differentiates and the submucosal glands form; by the eighth week, the mesenchyme surrounding the tube gives rise to cartilage, muscle and connective tissue [2]. Dorsoventral patterning of this mesenchyme places the cartilage in the ventrolateral region and the trachealis muscle in the dorsal region, and the epithelium participates actively in this organisation [2]. Complete rings result from an embryogenic defect after the eighth week [4, 32], and tracheal cartilage appears from mesenchymal growth centres between days 51 and 54 [12].

The signalling pathways that determine cartilage formation converge on the transcription factor SOX9, expressed in chondrocyte progenitors of the ventrolateral mesenchyme: Wnt ligands and β-catenin promote Sox9 expression; BMP4, through SOX9, induces the differentiation of mesenchymal cells into chondroblasts; SHH (Sonic Hedgehog), also through SOX9, stimulates tracheal cartilage formation; and members of the FGF family (FGF4, 8, 10 and 18) participate in the process [2]. In murine models, levels of mesenchymal FGF10 within a critical window, between embryonic days 11.5 and 13.5, are required for the periodic expression of Shh in the ventral epithelium and therefore for the alternating pattern of rings and intercartilaginous spaces [49]. Targeted ablation of Bmp4 in the foregut preserves tracheal specification but compromises its growth through reduced epithelial and mesenchymal proliferation, reproducing a phenotype similar to Floyd type II, the most common type of human tracheal agenesis [19]. These results come from preclinical studies and do not establish causality in patients.

2.2. Spectrum of cartilage anomalies: from malacia to complete rings

Sinner and colleagues proposed that complete ring deformity and tracheomalacia are opposite extremes of a spectrum of disorders of tracheal cartilage and muscle development: in tracheomalacia cartilage is insufficient or absent, in complete rings there is a circumferential excess of cartilage and a lack of trachealis muscle [2]. Comparison with genetically modified mice shows genes whose loss produces a tracheal sleeve (Fgf10, Fgfr2), reduced or discontinuous rings (Wnt5a and Ror2, whose human orthologues cause Robinow syndrome; Tbx4, Tbx5, Sox2, Hoxa5; Raldh2, associated with DiGeorge syndrome), discontinuous rings (Foxf1, associated with VACTERL; Wnt4, associated with SERKAL syndrome; Cftr; Fgf18) and almost absent cartilage (Shh, Wls, Sox9, the latter a cause of campomelic dysplasia) [2]. In the Fgfr2c+/Δ murine model of Apert syndrome, with ectopic expression of Fgfr2b in the mesenchyme, tracheal stenosis with a uniform cartilaginous sleeve is associated with increased mesenchymal proliferation and raised expression of Fgf10 and its regulators Tbx4 and Tbx5, and genetic reduction of Fgf10 corrects the phenotype [50]. The Fgfr2+/S252W model has complete rings and thickening of the tracheal cartilage, whereas the Fgfr2+/P253R model, corresponding to the second recurrent variant of Apert syndrome (NM_000141.5:c.758C>G p.(Pro253Arg) in the human gene), describes no tracheobronchial anomalies; the text by Wenger and colleagues mistakenly designates it as P250R (also in the patients with Apert syndrome in the cohort), but cites the Fgfr2+/P253R model of Wang and colleagues (2010) and states elsewhere that Apert syndrome results from S252W or P253R [5]. In mice with a Tbx1 mutation, a critical gene of the 22q11.2 region, there are laryngotracheal cartilage defects in addition to outflow tract and aortic arch defects [51].

2.3. Isolated complete-ring stenosis: genomic study and candidate variants

Stenosis due to complete rings has no established gene, and Orphanet classifies the inheritance as not applicable [1]. Occurrence in monozygotic twins suggests a genetic basis: OMIM records a pair of concordant female twins assessed at 6 months for noisy breathing and wheeze since birth [10], and at GOSH two pairs of identical twins were treated, all affected by long stenosis, three of them with a left pulmonary artery sling and one with an intracardiac malformation [21].

The only targeted genomic study was carried out in Cincinnati in 2012, in five children with complete rings in more than 50% of the trachea, without another syndrome or congenital anomaly (median age 5.6 years, range 2 to 12; all of European ancestry, 40% Hispanic; four with a sling; four operated on), and in their parents, by trio exome sequencing [2]. Histology of the five tracheas showed circumferentially continuous rings, undetectable trachealis muscle, widening of the subepithelial lamina propria, increased submucosal glands and luminal narrowing [2]. Six de novo variants confirmed by Sanger sequencing (of nine detected), three recessive variants and several rare compound heterozygous or hemizygous variants were identified. The most relevant was a de novo missense variant in SHH, predicted deleterious by the three predictors used and present in about 30% of nucleated peripheral blood cells, that is, in mosaic form; the authors related the mosaicism to the perinatal lethality of complete Shh ablation in the mouse [2]. Compound heterozygous variants were also described in ROR2 (both predicted pathogenic), HSPG2 (perlecan) and WLS, genes of the Wnt and Hedgehog pathways, and variants of uncertain significance in TTN and MYH13 [2]. The SHH variant was published only by genomic coordinate, without reference and alternative alleles, which prevents its normalisation in HGVS nomenclature. With five patients and no replication, none of these variants has the status of an established cause; in the clinical context they should be interpreted as variants of uncertain significance or candidates.

Cincinnati Children's maintains the registered observational study NCT03455881 of exome sequencing in patients with tracheal and oesophageal malformations and their relatives, with an estimated enrolment of 360 participants; the status in the registry has been unknown since the last update, in March 2023, and there are no results posted in the registry [52].

2.4. Maternal and environmental factors

OMIM mentions severe congenital tracheal stenosis in two children of diabetic mothers and the experimental induction of congenital tracheal stenosis in lambs by maternal ingestion of Veratrum californicum [10]. Maternal diabetes is also cited as a possible risk factor for the VACTERL association [23, 53]. Mycophenolate mofetil embryopathy includes pulmonary artery sling among the malformations described [20], and fetal valproate syndrome occasionally includes tracheomalacia and laryngeal hypoplasia [54].

2.5. Tracheal cartilaginous sleeve in the syndromic craniosynostoses

In the tracheal cartilaginous sleeve the normal segmentation of the rings is missing: the trachea is a tube of solid anterior and lateral cartilage, with a normal posterior membranous wall in the definition of Wenger and colleagues [5]. Schweiger and colleagues describe it as a single sheet of cartilage that may extend to the cricoid and the bronchi [26], and in Pfeiffer syndrome OMIM describes a solid cartilaginous plate along the whole trachea and beyond the carina, with stenosis [55]. The sleeve does not keep pace with the child's growth, and the lack of «C» rings prevents distension of the airway with coughing, which makes clearance of secretions ineffective; hence the risk of sudden death from mucus occlusion during infections [5, 6].

The craniosynostoses with a tracheal sleeve are autosomal dominant disorders, usually due to de novo variants, caused by gain-of-function variants of the fibroblast growth factor receptors [6]. In the Seattle cohort of 86 children with syndromic craniosynostosis, the sleeve was found in patients with variants in FGFR2 (Pfeiffer, Crouzon and Apert syndromes), FGFR3 (Crouzon syndrome with acanthosis nigricans) and TWIST1 (Saethre-Chotzen syndrome), and not in other genes [5]. The strongest genotype-phenotype correlation concerns residue 290 of FGFR2: the five patients with p.Trp290Cys had a sleeve, whereas none of the four with p.Trp290Arg nor of the two with p.Trp290Gly had one; at residue 342, five patients in the cohort had a sleeve and four did not, and in the cohort plus the literature there were 11 patients with a sleeve and a variant at that residue [5]. In the Philadelphia series of 11 patients with Pfeiffer syndrome, the six severely affected had FGFR2 p.Ser351Cys (three), p.Cys342Ser (two) and p.Trp290Cys (one), and five of them had a cartilaginous sleeve diagnosed at bronchoscopy or tracheotomy [56]. Three fetuses with severe Pfeiffer syndrome and the same p.Ser351Cys variant had a sleeve at autopsy, with no visible rings [55, 57]. In Apert syndrome, the only patient with a sleeve and genotyping had p.Ser252Trp; among the tested patients without a sleeve, five had p.Pro253Arg and one p.Ser252Trp, and the number is insufficient to assert a differential risk between the two recurrent variants [5].

The following table normalises the variants cited on the MANE Select transcript, confirmed in VariantValidator; the clinical sources use the abbreviated protein form and do not state the nucleotide change of each patient, so the changes recorded in ClinVar that encode each substitution are presented [58, 59].

2.6. Syndromic and chromosomal forms

Structural tracheal anomalies arise in several syndromes, with distinct mechanisms (excess cartilage, vascular compression, proliferative fibrosis or deposition of storage material). The table brings together those described in the sources, with abbreviated inheritance (AD, autosomal dominant; AR, autosomal recessive; XL, X-linked; XLD, X-linked dominant); the syndromic entities are dealt with here only insofar as the trachea is concerned.

Down syndrome deserves particular mention because of the frequency of trisomy 21. Wells and colleagues described in 1992 four patients with mid-tracheal stenosis, three with proven absence of the mid pars membranacea, and noted that about half of the published patients with this pattern had Down syndrome [65]. The systematic review by Fockens and colleagues, of 59 articles, concluded that the trachea of children with Down syndrome is narrower (1.3 to 3.2 mm on MRI in asymptomatic children), that tracheomalacia and tracheal bronchus are significantly more frequent and that congenital stenosis, complete rings and vascular compression are observed regularly [12]. No association has been described between Down syndrome and tracheal agenesis or cartilaginous sleeve [12].

In Myhre syndrome, caused by recurrent SMAD4 variants, the mechanism is different: it is a connective tissue disorder with proliferative fibrosis that may affect the large airways; the cause of the multilevel stenosis, from the choanae to the bronchi, is unknown, with a congenital predisposition aggravated by trauma or infection being considered, although many children have been intubated repeatedly without stenosis [15]. The de novo variants whose parental origin was studied were all paternal and associated with advanced paternal age [15].

2.7. Tracheal agenesis and atresia

No causal gene for human tracheal agenesis has been identified [8]. Animal models with inactivation of Gli2, Gli3, Shh, Foxf1 and β-catenin produce agenesis or incorrect septation of the foregut, and type I BMP receptors appear to play a relevant role [8, 19]. In a cohort of 12 patients studied by array comparative genomic hybridisation, many copy-number variations were inherited from the parents, there were no recurrent deletions or duplications, and one patient with a syndromic phenotype (vertebral, anal, cardiovascular and tracheo-oesophageal anomalies, cartilaginous rings in the oesophagus and an aberrant right bronchus) had a 3.6 Mb deletion at 5q11.2, in addition to an inherited 16p12.1 deletion; the authors concluded that tracheal agenesis is genetically heterogeneous [18]. In the review of 49 cases published between 2005 and 2010, a karyotype was performed in 18 of 31 patients and was abnormal in only two (mosaic with a marker chromosome and 5q11.2 deletion) [8]. Evans and colleagues, through numerical analysis of about 100 cases with multiple anomalies, concluded that the malformation pattern of tracheal agenesis overlaps with that of VACTERL but is distinct, with more lower respiratory anomalies (laryngeal atresia, lobation defects) and complex heart disease and fewer anal and vertebral anomalies, and proposed abnormal epithelial-mesenchymal interactions as a common mechanism [90, 91].

2.8. Pathophysiology of the obstruction

The severity of complete-ring stenosis depends on the length of the segment, the degree of narrowing, bronchial involvement and concomitant respiratory conditions [92]. The lumen may be reduced to 2 or 3 mm [32], and about half of children have, at diagnosis, an internal diameter of approximately 2.0 mm [26]. In the first weeks of life the infant grows faster than the stenotic segment, which may render critical an obstruction that was previously tolerated [26]. The rings grow with the child, although non-linearly; when the obstruction is moderate, growth may accommodate ventilatory needs and the presentation may be late, with insidious-onset exercise intolerance [26]. A tight endotracheal tube, traumatic intubation or rough instrumentation can cause enough oedema and granulation to convert a narrow airway into a critical airway, and give rise to an acquired stenosis superimposed on the congenital one [24, 26]. In pulmonary artery sling, the left pulmonary artery arises from the right and passes between the trachea and the oesophagus, compressing the distal trachea and the right main bronchus, but the coexisting complete-ring stenosis extends well beyond the zone of compression [2, 3].

3. Clinical Spectrum and Manifestations by System

3.1. Complete-ring stenosis: presentation

Most infants present with severe respiratory distress, with biphasic stridor described as «washing machine» breathing, recession, increased work of breathing and cyanotic spells [4]. Noisy breathing from birth, recurrent wheeze that does not respond to bronchodilators, «wet» breathing, exertional dyspnoea and worsening during respiratory infections are other forms of presentation [12, 93]. Some patients are only revealed when advancing an endotracheal tube for an elective procedure proves difficult, and the diagnosis may remain unrecognised for years or never be made [12]. Late presentation is usually with exercise intolerance, of insidious onset, and symptoms may be disproportionately mild for the calibre of the airway [26]; in adulthood, the disease may be mistaken for asthma [4]. In the systematic review by Ywakim and El-Hakim, with 310 patients from 20 retrospective series (1996–2008), the mean age was 17.1 ± 24.1 months and the male-to-female ratio 1.7:1; in their own series of four patients, three were diagnosed before 4 months and one at 13 years, after having been treated as asthmatic [94].

3.2. Morphology and associated anomalies in the large series

Quantitative information comes almost entirely from surgical series from referral centres, which use cardiopulmonary bypass (CPB) or extracorporeal membrane oxygenation (ECMO) during repair, which selects symptomatic and complex patients. The figures do not represent the natural history of the whole population with complete rings.

In the Cincinnati series, the stenosis was distal in 33.1%, mid in 9.5%, proximal in 1.4%, spanned two thirds of the trachea in 37.9% and almost the whole trachea in 11.5%; the median length was 4.0 cm (interquartile range 3.5 to 5.4) and the narrowing 50–80% in 35.8%, greater than 80% in 21.6% and less than 50% in 20.9% [24]. The most frequent cardiac defects were sling (23.6%), patent ductus arteriosus (17.6%), atrial septal defect (17.6%), ventricular septal defect (14.9%) and tetralogy of Fallot (6.1%) [24]. Schweiger and colleagues report associated anomalies in more than 75% of patients and cardiovascular anomalies in 60% of an earlier Cincinnati series [26], and Sinner and colleagues cite absence of associated malformations in only 10–25% of patients [2].

3.3. Ring-sling complex

In pulmonary artery sling, the left pulmonary artery arises from the right and passes posterior to the trachea [2, 3]. The proportion of patients with a sling who have complete rings varies with the series and the method of ascertainment: 70% according to Sinner and colleagues, 50–65% according to Sengupta and Murthy, and 79% (27 of 34) in the Chicago surgical series [2, 28, 32]. Conversely, a sling is present in about one third of patients with tracheal stenosis [32] and in 23.6% to 44% of surgical series of complete rings [24, 30]. In the Shanghai series of 116 patients with ring-sling complex operated on by slide tracheoplasty between 2009 and 2018 (median age 1.2 years), 78 had additional cardiovascular anomalies, 7 unilateral pulmonary hypoplasia, the carina was involved in the stenosis in 42 and compressed in 58, the stenosis extended to the main bronchus in 25 (21.6%) and about two thirds were Wells type 2 [32, 48]. In isolated sling, without complete rings, compression is the main mechanism; Orphanet does not describe its prevalence [9].

3.4. Pulmonary and bronchial malformations

Unilateral pulmonary agenesis or hypoplasia accompanies a minority of patients and modifies the prognosis. In Cincinnati, 18 of 130 patients undergoing slide tracheoplasty had a pulmonary malformation (unilateral agenesis in 61%, hypoplasia in 39%) and more often needed mechanical ventilation (55.6% versus 21.3%), ECMO (11% versus 0.9%) and tracheostomy (22.2% versus 3.6%) before surgery [98]. At GOSH, seven patients with a single lung (four with a single right lung) had associated anomalies in four cases, including vascular ring, sling, VACTERL and atrial septal defect [99]. Tracheal bronchus, in which the right upper lobe bronchus arises from the trachea, has been described in 0.5–1.9% of paediatric bronchoscopies in general and in 27.8–40% of complete-ring series [24, 96]. Children without a tracheal bronchus presented earlier (median 184 versus 432 days), with stenosis of more than 80% of the trachea more frequent (40.6% versus 12.5%) and more bronchial extension (28.1% versus 12.5%), more preoperative ventilation (49.0% versus 29.7%) and more cardiorespiratory arrests (15.6% versus 1.56%) [96]. Isolated complete bronchial stenosis is rare and almost always corresponds to extension of the tracheal rings [26].

3.5. Other associations described

The association with Down syndrome is the most frequent among the chromosomal ones; in the Cincinnati series, 29.7% of children had a genetic anomaly [24]. Two infants have been described with complete rings and anterior (Morgagni) diaphragmatic hernia diagnosed months later, one of them with trisomy 21 and sling, an association not previously reported [100]. In classic Mowat-Wilson syndrome, pulmonary artery sling occurs in 3% of more than 340 published patients, with or without tracheal stenosis (less than 4%), and its rarity in the general population means that an isolated sling should lead to consideration of this diagnosis [14]. Tracheal stenosis has also been described in patients with VACTERL and other malformation associations [4, 99].

3.6. Tracheal cartilaginous sleeve

The sleeve is often asymptomatic, but carries a significant risk of sudden death from mucus obstruction during intercurrent illness [6]. It coexists with upper airway obstruction due to choanal stenosis or atresia, midface retrusion and tongue base obstruction, and the combination explains obstructive sleep apnoea and the frequent need for tracheostomy [6, 22]. In the meta-analysis by Lertsburapa and colleagues, patients without a tracheostomy had a 90% risk of death by 2 years; the presence or absence of a pars membranacea was not associated with symptoms or survival [5, 31]. In the Philadelphia series, of the six patients with severe Pfeiffer syndrome, one died at 2 weeks after withdrawal of support, five underwent tracheotomy for severe upper airway obstruction, three died at 9 months, 7 years and 15 years and two were alive at 23 and 18 months [56]. In a Houston series, 8 of 10 children with syndromic craniosynostosis undergoing direct laryngoscopy and bronchoscopy had signs of a sleeve, and 7 were tracheostomy-dependent [101]. Early mortality in Pfeiffer syndrome, estimated at 25–85% in older series, has fallen to 7–22% in recent estimates [5]. In Beare-Stevenson syndrome, multilevel obstruction may lead to death in the first months if the airway is not actively managed, and survivors frequently need tracheostomy and gastrostomy [63].

3.7. Syndromic forms with acquired or progressive stenosis

In Myhre syndrome, respiratory obstruction is multifactorial; the multilevel stenosis extends from the choanae to the bronchi, with mild to complete subglottic stenosis; in childhood there may be mild stridor and croup, which rarely progress to the severe multilevel form; choanal stenosis progressing to atresia is rare [15]. GeneReviews illustrates a female patient who had a tracheostomy at 13 years for complete tracheal stenosis attributed in part to traumatic intubations [15], and OMIM records a man with wheeze from the age of 21 and a tracheostomy at 23 [71].

In geleophysic dysplasia, asthma occurs in 30–40% of patients and multilevel obstruction in 30%, detected mainly in the first year, including laryngeal and tracheal stenosis, tracheomalacia, laryngomalacia and bronchomalacia, often progressive; 40% have multifactorial pulmonary arterial hypertension [16]. Tracheal histology shows PAS-positive lysosome-like vacuoles [16]. One child died at 3.5 years from obstruction caused by progressive tracheal narrowing [73].

In the mucopolysaccharidoses, accumulation of glycosaminoglycans in the adenoids, tonsils, pharynx, larynx, trachea and bronchial tree causes adenotonsillar hypertrophy, tracheal distortion, tracheo- and bronchomalacia and obstructive apnoea; in MPS IVA, airway tortuosity may cause obstruction with neck flexion [76]. The extension of survival with enzyme replacement therapy may make these complications more prevalent at older ages, and the impact of this therapy on tracheobronchial changes has not been described [77].

In 22q11.2 deletion syndrome, the laryngotracheo-oesophageal anomalies include vascular ring, laryngeal web, laryngotracheomalacia and subglottic stenosis [13]. In Pallister-Hall syndrome, the spectrum ranges from asymptomatic bifid epiglottis to laryngotracheal cleft with neonatal lethality [79].

3.8. Tracheal agenesis and atresia

In tracheal agenesis all or part of the trachea below the larynx is missing, with no communication between the larynx and the lower airways, with or without a tracheo-oesophageal fistula [7, 8]. The Floyd and Faro classifications correspond as shown in the table [8, 43, 44].

In the review of 49 cases published between 2005 and 2010, 69% were boys, Floyd type II accounted for 38%, type I 24% and type III 22%; there was polyhydramnios in 72% (28 of 39), twin pregnancy in 12% and congenital high airway obstruction syndrome (CHAOS) in 13%; median gestational age at birth was 34 weeks and mean weight 2048 g [8]. Associated anomalies, present in 80%, were mainly cardiac septal defects, laryngeal defects, duodenal atresia, imperforate anus and renal and digital malformations; in 11 of 28 cases with polyhydramnios agenesis was the only malformation [8]. In the systematic review by Smith and colleagues, with 149 cases published between 1950 and 2015, the male predominance was 65%, associated malformations reached 94.2%, prenatal ultrasound was abnormal in 56.3% (mainly polyhydramnios) and the most frequent type was Faro C [27]. Evans and colleagues identified, in 86 patients, four clusters of anomalies: one limited to the trachea, larynx and cardiovascular system; one with more severe heart disease and lobation defects; one with a caudal, anal and renal component; and a multisystem one with aberrant vessels, complex heart disease and anomalies of other foregut derivatives, without male excess [90]. Pictures combining tracheal agenesis, complex heart disease, radial ray defects and duodenal atresia are designated by the acronym TACRD [18, 91].

In the newborn, the signs are respiratory distress with respiratory movements without air entry, absence of an audible cry and inability to intubate despite the vocal cords being visible [8, 23]. When there is a tracheo-oesophageal fistula, ventilation through the oesophagus may oxygenate the patient temporarily; in the Amsterdam case, oesophageal intubation raised oxygen saturation to 100% before tracheotomy confirmed the absence of the trachea [8, 44]. Without a fistula, complete obstruction manifests in the fetus as CHAOS, with hyperechogenic lungs, flattened diaphragms and hydrops [8, 23, 34].

3.9. Natural history in adulthood

Mild forms may reach adulthood in a stable condition, owing to compensatory airway growth [25]. The literature on adults with persistent diffuse stenosis is limited to isolated cases, and there are no data on the natural history nor consensus on follow-up intervals [25]. The case described in section 10 illustrates the course up to 20 years of age without tracheal surgery.

4. Clinical Recognition and Warning Signs

4.1. When to suspect complete tracheal rings

Suspicion should arise in an infant with biphasic stridor or persistent wheeze from birth, particularly when it does not respond to bronchodilators, when there is recession with apparently normal growth, or when symptoms worsen with respiratory infections [4, 93, 100]. A chest radiograph may show tracheal narrowing, deviation or a «T»-shaped carina, and should be read with attention directed to the airway along its whole length; in resource-limited settings, symptoms are often attributed to tuberculosis or viral infections, and an airway anomaly without mediastinal lymphadenopathy should suggest a congenital malformation [93]. Unexpected difficulty in advancing an endotracheal tube, the need for a smaller tube than expected for age or inability to wean a newborn from continuous positive airway pressure are forms of presentation [12, 100]. In the older child and adult, exercise intolerance, exertional stridor and a flow-volume curve flattened in both phases, with a fixed obstructive pattern without response to bronchodilator, should raise the hypothesis of fixed tracheal obstruction before a diagnosis of asthma [25, 26].

4.2. Risk settings

The following justify an active search for a tracheal anomaly: pulmonary artery sling, in which complete rings coexist in most operated patients [28, 32]; congenital heart disease with disproportionate respiratory symptoms, particularly when cardiac repair does not resolve the respiratory distress [32]; unilateral pulmonary agenesis or hypoplasia [98]; Down syndrome with biphasic stridor, dyspnoea or wheeze [12]; multisutural syndromic craniosynostosis, in particular with the FGFR2 p.Trp290Cys variant, variants at residue 342 or suspected Pfeiffer syndrome [5]; isolated sling, which should lead to consideration of Mowat-Wilson syndrome [14]; and Myhre syndrome, geleophysic dysplasia and the mucopolysaccharidoses with symptoms of obstruction [15, 16, 76].

4.3. Emergency signs

Emergency signs are cyanotic or apnoeic spells, difficulty ventilating after intubation, a progressive rise in the partial pressure of carbon dioxide in an intubated patient (suggestive of a mucus plug) and respiratory distress during an infection in a patient with a cartilaginous sleeve [6, 24]. A newborn with respiratory movements without air entry, without an audible cry and impossible to intubate despite visualisation of the vocal cords should suggest tracheal agenesis, and intubation of the oesophagus may allow temporary ventilation if there is a fistula [8].

4.4. Prenatal diagnosis and screening

There is no newborn screening. Complete-ring stenosis has no specific prenatal signs described in the sources consulted; the sling and associated heart defects may be identified on fetal echocardiography. In tracheal agenesis, prenatal diagnosis has only been made in cases without a fistula, which presented as CHAOS; with a fistula, polyhydramnios associated with other malformations should alert to a possible tracheal problem, and fetal MRI may provide the definitive diagnosis [8].

5. Diagnosis: Criteria, Tests and Algorithms

5.1. Diagnostic criteria

There are no formal criteria published by a scientific society. The diagnosis of complete-ring stenosis is anatomical: fixed narrowing of the tracheal lumen with closed cartilaginous rings and absence of the posterior membranous wall, confirmed by endoscopy, with CT as a complementary investigation [1, 24, 25]. In the Cincinnati study, a confirmed diagnosis required the cartilaginous support structure to cause narrowing, with exclusion of tracheomalacia and acquired stenosis [24]. For the cartilaginous sleeve, the endoscopic criteria of Wenger and colleagues are the absence of tracheal rings with a normal posterior membranous wall, confirmed by high-resolution CT or by direct visualisation of the anterior wall during tracheostomy [5].

5.2. Endoscopy

Bronchoscopy is the reference standard to confirm complete rings, define severity, distinguish congenital from acquired lesions and plan treatment [12, 25]. It must be performed with extreme care and with the smallest telescopes available, because rough instrumentation can cause enough oedema to turn a narrow airway into a critical airway [26, 102]. In Cincinnati, the assessment is performed under general anaesthesia with spontaneous ventilation (sevoflurane by face mask and propofol infusion), with topical lidocaine on the vocal cords to reduce laryngospasm and suction of secretions at the start of bronchoscopy; a 2.8 mm flexible bronchoscope with a working channel is used or, if the trachea does not admit it, a 2.2 mm one without a channel, with a 6 Fr suction catheter [24]. Half of children with complete rings do not easily admit a 2.8 mm endoscope, which corresponds to the outer diameter of a 2.0 mm endotracheal tube; the 2.0 mm tube and the 2.5 mm tracheostomy tube may not pass the stenotic segment [24, 26]. Endoscopy also identifies tracheal bronchus, trifurcation, extension to the carina and bronchi and distal malacia, all with surgical and prognostic implications [29, 30]. In tracheomalacia, by contrast, diagnosis requires endoscopy with the patient breathing spontaneously, preferably flexible, because large-calibre rigid instruments may splint the airway and mask the collapse [26, 103].

5.3. Imaging and respiratory function

CT with three-dimensional reconstruction describes the tracheal anatomy, the extent of the stenosis, the circular morphology and the bronchial anomalies, and CT angiography and echocardiography identify the sling and heart defects; in Chicago, all patients with a sling had rigid bronchoscopy, echocardiography and, since 2000, CT with three-dimensional reconstruction, considered essential for planning [25, 28]. Dynamic CT may help when laryngotracheoscopy leaves doubts, and in fetal losses with Down syndrome microfocus CT can complement the autopsy [12]. The plain radiograph retains value for triage, in particular where CT is not available [93]. Respiratory function tests with a flow-volume curve show, in fixed central obstruction, flattening of the inspiratory and expiratory limbs, reduced peak flows and no response to bronchodilator; they help in the differential diagnosis with asthma and in monitoring, but do not replace endoscopy [25]. Computational fluid dynamics was proposed in 2026 as an objective measure of severity in a proof-of-concept study, whose results are not included in the sources read [104].

5.4. Assessment of associations

In the presence of complete rings, the assessment includes echocardiography and CT angiography to exclude a sling and heart disease, assessment of the bronchial tree and lungs, and a dysmorphological examination directed at the syndromes in section 2.6 [12, 24, 28]. In the presence of multisutural syndromic craniosynostosis, referral to a paediatric otorhinolaryngologist, polysomnography, airway endoscopy (bedside flexible, diagnostic laryngoscopy and bronchoscopy) and operative airway assessment are recommended, which can be coordinated with cranial surgery to limit anaesthetics [5, 6, 22]. In Myhre syndrome, the stenosis should be assessed by the least invasive means possible [15].

5.5. Genetic testing

In isolated complete-ring stenosis there is no genetic test with demonstrated yield, and genetic investigation should be guided by the associated phenotype [2]. Karyotype or chromosomal microarray analysis confirm trisomy 21 and 22q11.2 deletion; sequencing of ZEB2 with deletion analysis identifies about 84% (point variants) and 15% (2q22.3 deletions) of patients with classic Mowat-Wilson, and chromosomal rearrangements explain about 1% [14]. In syndromic craniosynostosis, Wenger and colleagues propose a next-generation sequencing panel including FGFR1, FGFR2, FGFR3 and TWIST1, because the clinical distinction between Crouzon and Pfeiffer is difficult in the neonatal period and the identification of p.Trp290Cys changes the indication for operative airway assessment, which comes to be considered the standard of care [5]. In Myhre syndrome, the diagnosis rests on a heterozygous, usually recurrent, SMAD4 variant [15]. In tracheal agenesis, microarray analysis identified rare CNVs in a small number of patients [18].

The report of a molecular test should state the gene, the reference transcript and version (for example, NM_000141.5 for FGFR2 and NM_000142.5 for FGFR3, both MANE Select), the variant in nucleotide and protein HGVS nomenclature, the zygosity and the classification according to the ACMG/AMP criteria [14, 59]. A negative result on a panel does not exclude a clinically based syndrome, and blood sequencing may not detect low-fraction mosaic variants, such as the SHH variant present in about 30% of blood cells in Sinner's study [2]. Variants found in isolated stenosis should be interpreted as of uncertain significance until there is additional functional and segregation evidence [2].

5.6. Practical algorithm

The pathway that emerges from the sources is as follows: clinical or radiological suspicion; airway stabilisation, avoiding traumatic intubations and tight tubes; endoscopy with minimum-calibre instruments under spontaneous ventilation, by an experienced team; CT with three-dimensional reconstruction and echocardiography or CT angiography; characterisation of length, calibre, number of rings, bronchial arborisation, malacia and pulmonary anomalies; genetic assessment directed at the phenotype; and therapeutic decision by a multidisciplinary team in a referral centre [24, 26, 28, 105, 106].

6. Differential Diagnosis

6.1. Comparative table

6.2. Comments on the main differential diagnoses

The most important differential, because of its therapeutic consequences, is between fixed and dynamic obstruction. Tracheomalacia is characterised by collapse of the wall during expiration, coughing or crying, with mid-pitched expiratory stridor, «brassy» cough and, in severe cases, apnoeic and cyanotic spells; the primary form tends to improve by 18 to 24 months [26, 107]. The 2019 European Respiratory Society (ERS) statement stresses that there is no universally accepted severity classification and that diagnosis is usually made by flexible bronchoscopy with the child breathing freely, or by dynamic imaging techniques, with respiratory function as a supporting test [103]. The members of the task force consider flexible bronchoscopy during spontaneous ventilation the reference standard, because the rigid bronchoscope may splint the airway; the assessment remains subjective, the instrument itself occupies part of the lumen, and anaesthesia that is too deep may mask the collapse, while anaesthesia that is too light, with coughing, exaggerates it [103]. They propose grading the collapse by loss of cross-sectional area: up to 50% normal, 50–75% mild, 75–90% moderate and more than 90% severe [103]. In respiratory function, flattening of the inspiratory and expiratory limbs of the flow-volume curve points to fixed obstruction, except for simultaneous intra- and extrathoracic malacia, which helps to separate malacia from complete rings; tidal flow limitation is highly predictive of malacia [103]. On imaging, fluoroscopy has a sensitivity of 20–24% and a specificity of 93–100%; paired inspiratory/expiratory multidetector CT had an accuracy of 91% compared with bronchoscopy, in a population with severe malacia that probably overestimates it; free-breathing cine CT, without general anaesthesia, had a sensitivity of 96.3% and a specificity of 97.2%, with a mean effective dose below 2 mSv; and intravenous contrast is only needed when compressive causes, such as vascular anomalies, are sought [103]. In primary non-syndromic malacia, symptoms often resolve by 1–2 years, although exercise intolerance may persist [103]. Malacia may coexist with complete rings, distal to the stenotic segment, and preoperative malacia is one of the predictors of mortality and need for a stent after slide tracheoplasty [29, 109].

Extrinsic vascular compression causes narrowing with a normal tracheal wall and, in most cases, mild or absent symptoms [26]. In a sling, however, the compression is often the lesser part of the problem, and the accompanying complete-ring stenosis determines the severity [3]. For this reason, every child with a sling should have endoscopic assessment of the trachea before vascular surgery [28].

Acquired stenosis usually results from intubation with an oversized tube or prolonged intubation; in children with Down syndrome, whose trachea is narrower, the appropriate tube is 0.5 to 1.5 mm smaller than predicted for age, and a leak test with an audible leak at a pressure between 10 and 30 cmH2O indicates appropriate calibre [12]. In a child with undiagnosed complete rings, forced intubation may create an acquired stenosis on top of the congenital one [24].

Myhre syndrome and geleophysic dysplasia are distinguished by being systemic diseases with progressive stenosis, with their own skeletal, cutaneous and cardiac signs; their recognition changes the approach, because in Myhre syndrome tracheal resection is contraindicated and instrumentation should be minimal [15, 16]. Tracheal agenesis is distinguished from all the others by the absolute impossibility of ventilation via the trachea from birth [8].

7. Treatments and Risk Management Strategies

7.1. General principles and organisation of care

The treatment of congenital tracheal stenosis is mechanical: surgical, endoscopic or surveillance. There is no targeted pharmacological therapy, and medical treatment alone of symptomatic complete-ring stenosis is ineffective, with a cited mortality of at least 40% [32, 33]. The decision depends on the length and calibre of the stenosis, the symptoms, age, bronchial involvement, pulmonary and cardiac anomalies and syndromic comorbidities [33, 92]. The authors of the largest series advocate centralisation in units with multidisciplinary teams (otorhinolaryngology, cardiothoracic surgery, respiratory medicine, anaesthesia, intensive care, cardiology, speech and swallowing therapy); at GOSH, the creation of such a team and the policy of primary slide tracheoplasty coincided with lower mortality and lower cost [42, 105, 109], and in Cincinnati the coordinated aerodigestive model and a unit dedicated to complex airways are accompanied by short hospital stays [24, 102].

7.2. Consensus recommendations

The 2022 International Pediatric Otolaryngology Group (IPOG) consensus, obtained by a Delphi method from an 18-item survey answered by 43 members, issued recommendations on the initial history, clinical and diagnostic assessment, temporising measures, definitive repair and care after repair, and highlights the diversity of strategies and the importance of the multidisciplinary approach; it is aimed at airway specialists, intensivists and other clinicians who treat these patients [106]. The survey was drawn up by three of the authors on the basis of clinical experience, with multiple-choice answers, and the recommendations reflect the collective opinion of the group, without replacing individual clinical judgement [106]. The target population includes complete tracheal rings, cartilaginous sleeve and absence of tracheal rings, with or without congenital cardiovascular anomalies, and the consensus defines as long stenosis any stenosis that cannot be repaired by a cervical incision alone, a criterion that links anatomical extent to the choice of surgical approach [106]. The authors conclude that some elements of the diagnostic assessment, temporising measures and definitive repair are shared by most experts, despite variation between surgeons and institutions, and link the document to the earlier international Delphi consensus on outcome measures for laryngotracheal reconstruction [106]. According to Kanavitoon and colleagues, the IPOG recommends slide tracheoplasty for symptomatic long stenosis and simultaneous cardiac repair in patients with congenital heart disease [24]. The exact wording, strength and percentage agreement of each recommendation are not included in the accessible sources, because the full text of the consensus was not obtained. The 2007 review by Herrera and colleagues already proposed as standard segmental resection with anastomosis for short stenosis and slide tracheoplasty for long stenosis, and accepted conservative treatment in a selected group with close follow-up [33]. The Paediatric Cardiac Surgery Group of the Society of Paediatric Surgery of the Chinese Medical Association published in January 2023, in Chinese, an expert consensus on the diagnosis and surgical treatment of congenital tracheal stenosis in children, presented as the first relatively uniform standard of diagnosis and surgical treatment in China [110]. The document resulted from the group's experience, a literature review, two meetings (Hangzhou and Huzhou) and online public consultation, and grades recommendations in classes I, IIa, IIb and III and evidence in levels A (several randomised trials or meta-analyses), B (one randomised trial or several non-randomised studies) and C (expert opinion, case series or small studies) [110]. In its introduction, the consensus cites a mortality of 50% to 80% without treatment, a figure from the series of 22 patients by Loeff and colleagues (1965–1987), and considers surgery the main treatment, which spread in China from 2003 [110]. The text of the recommendations and their class are available only to subscribers; the document's bibliography includes work on conservative treatment with tomographic criteria, extracorporeal membrane oxygenation as a bridge to surgery, variants of slide tracheoplasty and side-to-side tracheobronchoplasty, inhaled budesonide for postoperative granulation, balloon dilatation and serious complications after slide tracheoplasty [110]. In a Chinese cohort of 150 children with central airway stenosis, Zeng and colleagues applied the categories of congenital anomaly described in that consensus, identified by bronchoscopy or CT: complete O rings, narrowing of the membranous portion (small C ring), bridging bronchus, focal membranous or funnel stenosis and tracheobronchial deformation or tortuosity [111].

7.3. Conservative treatment

Not all children with complete rings need reconstruction. In asymptomatic patients or those with mild symptoms, a period of observation makes it possible to verify whether the airway grows enough; some patients never need surgery, while in others the child's growth outpaces that of the trachea and symptoms increase until intervention becomes necessary; the earlier the presentation, the greater the probability of surgery [26]. In the review by Ywakim and El-Hakim, 35–43% of the patients operated on in the published series had no qualified surgical indication, and the authors suggest that, if there is no difficulty in weaning from ventilation nor inability to keep up with the demands of growth and activity, the child can be managed conservatively [94]. In Down syndrome, the systematic review considers conservative treatment justified in mild to moderate forms, reserving surgery for severe ones [12]. In a sling with mild stenosis (tracheal diameter greater than 3 mm) and few symptoms, isolated reimplantation of the pulmonary artery may suffice [25]; in the Chinese multicentre cohort of 330 patients with sling and tracheal stenosis, 8.5% were treated with sling correction alone, and the decision to perform tracheoplasty was independently associated with younger age, long stenosis and more severe narrowing [112]. Inhaled corticosteroids have been used as a symptomatic adjuvant, with evidence limited to small series [25]. Conversely, the Lausanne authors argue that intervention may be justified in selected patients with mild symptoms to avoid progression to life-threatening airway compromise [4].

7.4. Airway stabilisation before surgery

Airway management requires joint planning between surgeon and anaesthetist [24]. When intubation is necessary, in long stenosis the first two rings are usually normal, so a tube of the appropriate calibre for the subglottis, positioned above the stenosis, can ventilate adequately even with very shallow intubation; the nasal route is preferred for tube stability [24]. A prolonged inspiratory time combined with a long expiratory time is recommended, with an acceptably high peak pressure, provided there is no tracheal bronchus, because high pressure risks pneumothorax of the right upper lobe and intubation of the tracheal bronchus does not ventilate adequately [24]. Prolonged intubation may cause granulation in the proximal rings and secondary stenosis; instillation of antibiotic and corticosteroid drops through the tube is reserved for when there is granulation [24]. Mucus accumulation, which manifests as a rise in carbon dioxide, is prevented by maximum humidification of the circuit; in the face of severe or progressive obstruction, the Cincinnati group describes instillation of 1 ml of 1:10,000 adrenaline through the tube and deep suction with a 6 Fr catheter (cutting off the distal 0.5 cm to remove the side holes), and, if ventilation is not possible, ECMO [24]. These measures constitute a single-centre protocol and not recommendations validated in trials. In the Cincinnati series, 24.3% of patients were intubated and 4.1% on ECMO before surgery; in other series, preoperative ECMO was needed in 10–27% [24].

7.5. Choice of surgical technique

Slide tracheoplasty is considered the reference standard for long stenosis [113, 114]. Its advantages are immediate reconstruction with rigid, vascularised tissue lined by normal mucosa, the possibility of early extubation, less granulation tissue and growth potential; the technique admits variants (short, oblique, reverse slide, extension to the carina, the membranous wall or the cricoid) and adapts to tracheal bronchus and pulmonary hypoplasia [4, 26]. The 2026 Cincinnati review stresses the «narrowest point» philosophy, 45° bevelled incisions and Grillo internal sutures [102]. Intraoperative bronchoscopy defines the proximal and distal limits of the complete-ring segment, marked with a 30 G needle through the anterior wall [26]. Tracheal growth after slide is similar to normal, about 0.42 mm per year [32]. In the presence of a tracheal bronchus, modifications of the technique were not accompanied by inferior results after propensity matching [96].

Most operations are performed through a thoracic approach with cardiopulmonary bypass (CPB): in Cincinnati, 77.0% thoracic, 18.2% combined and 3.4% cervical, with CPB in 96.6% (median time 95.5 minutes) and concomitant cardiac surgery in 37.2% [24]. In Lausanne, CPB is used when there is intracardiac repair and venoarterial ECMO when there is not, to avoid the systemic effects, anticoagulation and inflammatory response of CPB [4].

7.6. Simultaneous correction of heart disease and sling

Simultaneous repair of the trachea and the cardiac anomalies is the procedure of choice in the published series, because isolated cardiac correction often leaves postoperative respiratory compromise and tracheal surgery in a reoperative field is more difficult [32, 97]. Sengupta and Murthy prefer to complete the trachea before cardiac correction in the same operation, to secure the airway with a larger tube and spare the repaired heart from retraction [32]. In the Mainwaring series cited by the same authors, 21 patients with combined repair had two deaths, both in newborns with a functional single ventricle [32]. For the sling, the repair recommended in Chicago is median sternotomy with CPB and reimplantation of the left pulmonary artery into the pulmonary trunk; in patients with an absent or severely hypoplastic right lung, the artery was translocated anterior to the trachea; all reimplanted arteries remained patent (mean flow on scintigraphy of 41 ± 13%), and all recent tracheal repairs were performed by slide tracheoplasty [28].

7.7. Results of slide tracheoplasty

There are no randomised trials in congenital tracheal stenosis. The evidence comes from retrospective series from referral centres and two systematic reviews, with patients of differing complexity, different periods and non-uniform outcome definitions, which prevents direct comparisons between series. In the following tables, CI denotes the confidence interval, HR the hazard ratio and OR the odds ratio.

The most recent studies describe better hospital survival, in a significant temporal trend in the meta-regression by Wu and colleagues (coefficient −0.011; P = 0.021) and in the comparison of periods at GOSH [109, 116]. Reintervention rates depend on each centre's endoscopic surveillance policy and are not comparable between series: a scheduled balloon dilatation does not have the same meaning as an open surgical revision.

7.8. Risk factors

7.9. Postoperative care and reinterventions

In the intensive care unit, the two critical aspects are maintaining high airway humidity and keeping peak pressure below 25 to 30 cmH2O, so as not to compromise the anastomosis; if the subglottis allows, a tube of 3.5 mm or larger is preferred, which admits the 2.8 mm flexible bronchoscope with suction [24]. Most patients are extubated between day 0 and day 3; when there has been combined cardiac surgery, extubation is decided by consensus between the teams [24]. In Cincinnati, check bronchoscopy is performed one week after surgery, again one week later, then every 2 weeks and then every 4 weeks, and weekly if there is an anastomotic problem [24]. In Chicago, since 2007, the strategy has used less rigid bronchoscopy, more postoperative CT and inhaled ciprofloxacin with dexamethasone (Ciprodex®) to reduce granulation at the suture lines; this use is off-label and the sources consulted do not describe the dose [32, 97]. A trial of topical mitomycin C in laryngotracheal stenosis (NCT01523275) was terminated, and does not apply to congenital stenosis [118].

The most frequent reinterventions are balloon dilatation, endoscopic removal of granulation and temporary stenting [26, 29]. Dysphagia after slide tracheoplasty is frequent: in 43 of 83 GOSH patients assessed, 30 (70%) had dysphagia, all 22 studied by videofluoroscopy had altered swallowing physiology, 15 were at risk of aspiration and 9 had frank aspiration; there were two vocal cord palsies, and stenting was the strongest predictor (OR 10.6; 95% CI 1.2–92.8), which justifies systematic swallowing assessment after surgery [114]. The ERS statement on malacia, which includes tracheoplasty among the acquired causes of tracheomalacia, indicates as typical uses of balloon-expandable metal stents malacia secondary to tracheal surgery and isolated segments of malacia, because they can be redilated with growth, although they are difficult to remove, promote granulation and may erode vessels; bioabsorbable stents, resorbed in 3 to 4 months, serve as temporary support after tracheal surgery or as proof that relief of obstruction improves the clinical condition before definitive treatment [103]. The same document advises against extensive stenting in diffuse malacia and the combination of stent with tracheostomy, and reserves tracheostomy with positive pressure for cases in which other approaches have failed or in which almost continuous support is needed [103].

7.10. Tracheal cartilaginous sleeve

In the meta-analysis by Lertsburapa and colleagues, tracheostomy was associated with a significant survival advantage (P = 0.0067) in patients with a sleeve and craniosynostosis, regardless of the age at which it was performed (P = 0.45), and periodic bronchoscopy is necessary to treat stomal granulation [31]. Placement and care of the tracheostomy require caution, because healing is abnormal and granulation tissue forms [22]. Airway reconstruction by an experienced team is a possible alternative to tracheostomy, and slide tracheoplasty is feasible in the sleeve, although technically more difficult; successful resection of a sleeve has been described in a 12-year-old girl with Pfeiffer syndrome treated for sleep apnoea [5, 26, 119]. Wenger and colleagues recommend that the decision on the timing and placement of the tracheostomy, its care or reconstruction be led by an otorhinolaryngologist and an anaesthetist experienced in syndromic craniosynostosis [5]. Continuous positive airway pressure by mask may worsen midface retrusion in the child, with possible worsening of apnoea, and some tracheostomised children need positive-pressure ventilation during sleep [6, 22].

7.11. Progressive syndromic stenoses

In Myhre syndrome, in the presence of complete or recurrent tracheal stenosis, GeneReviews recommends considering balloon dilatation and, as an alternative, long-term tracheostomy; tracheal resection is contraindicated [15]. Limiting tissue trauma is the most important preventive measure: avoiding unnecessary instrumentation, elective tracheal surgery or intubation, using smaller uncuffed endotracheal tubes (or monitoring cuff pressure), and preferring non-invasive approaches for diagnosis; growth hormone and tobacco are also among the agents to avoid [15]. In geleophysic dysplasia, tracheostomy is used when the stenosis is severe [16]. In the mucopolysaccharidoses with diffuse narrowing in which adenotonsillectomy provides only temporary relief, the options are continuous positive airway pressure, non-invasive ventilation, tracheostomy and, possibly, tracheal reconstruction; intubation uses a videolaryngoscope, a fibreoptic bronchoscope, a smaller tube than predicted and a neutral neck position [76]. Kampmann and colleagues described the first tracheal stents in patients with MPS VI and MPS II with almost complete tracheal occlusion [77].

7.12. Tracheal agenesis and atresia

Tracheal atresia requires emergency resuscitation in the delivery room, and in the systematic review of 149 cases several surgical approaches were described, depending on the presence and type of fistula and the length of the remaining trachea [27]. In cases with a fistula, ventilation is via the oesophagus; in cases without a fistula diagnosed before delivery, the EXIT procedure (ex utero intrapartum treatment) allows cervical and mediastinal exploration before ligation of the cord [8, 34]. In the case of CHAOS due to complete agenesis described by Vaikunth and colleagues, thymectomy allowed access to the confluent main bronchi, with no trachea or connection to the oesophagus, and a 2.5 mm tube was placed in the right main bronchus; the child died at 3 months from mediastinitis with oesophageal erosion due to friction between the cannula and the nasogastric tube, and the authors concluded that early tracheal replacement was needed [34]. Trachealisation of the oesophagus with neonatal oesophagocarinoplasty has also been described in Floyd type II [120]. In the four long-term survivors of a Japanese series (77 to 109 months; Floyd I in two, II in one, III in one), none needed a ventilator; oesophageal or feeding reconstruction was performed with small bowel, gastric tube or oesophagus between 41 and 55 months, all were fed by gastrostomy and only small amounts were swallowed orally [35].

7.13. Regulatory status, trials and developments

There are no medicinal products or devices with an indication approved by the Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for congenital tracheal stenosis in the sources consulted, and the ClinicalTrials.gov search identified no pharmacological trials [118].

The first two registrations are feasibility and genetic association studies, and the third is retrospective; none provides comparative evidence of efficacy. Studies of slide tracheoplasty in acquired stenosis, including an Egyptian registry that is recruiting (NCT06917222) and a randomised trial published in 2026 that compared slide tracheoplasty with resection and anastomosis in acquired laryngotracheal stenosis, do not apply to congenital stenosis [118, 123].

In the 12 months before the update date, the literature added mainly observational data: the Cincinnati series of 227 patients with 10-year follow-up (published result, retrospective study) [95]; the Chinese multicentre cohort of 330 patients with sling and tracheal stenosis, which identified the determinants of the decision to perform tracheoplasty (published result, retrospective) [112]; the analysis of tracheal bronchus in 160 patients (published result, retrospective) [96]; the Lausanne series with assessment of respiratory function, voice and swallowing (published result, retrospective) [4]; the assessment of quality of life in 62 Japanese patients (published result, cross-sectional) [124]; and the technical review by Reuven and Rutter [102]. Also published were an endoscopic technique for complete rings, a proof-of-concept study of computational fluid dynamics and case reports of difficult intubation due to asymptomatic complete rings, whose results are not included in the sources read [104, 125, 126]. The search identified no marketing authorisation applications, opinions or regulatory decisions, which does not demonstrate that none exist.

7.14. Anaesthesia, perioperative care and special situations

Any anaesthetic in a child with known or suspected complete rings should be planned by an experienced team, with reduced-calibre tubes and ECMO available in severe cases [24]. In Down syndrome, the endotracheal tube should be 0.5 to 1.5 mm smaller than calculated for age [12]. In Mowat-Wilson syndrome, the most frequent anaesthetic problem is a difficult airway, which is rare, with no demonstrated increase in the risk of adverse outcome attributable to the syndrome [14]. In Myhre syndrome, intubation should be careful and with an uncuffed tube [15]. Pregnancy in a woman with geleophysic dysplasia is high risk because of the small pelvis, cardiac anomalies and tracheal stenosis, and preconception assessment and follow-up in a specialised perinatal centre are recommended [16]. Transition to adult care should include transfer of the endoscopic, functional and imaging data, as in the Lisbon case, transferred to adult respiratory medicine at 19 years [25].

8. Reproductive Options and Family Counselling

8.1. Isolated complete-ring stenosis

There are no recurrence risk studies for isolated complete-ring stenosis. Inheritance is classified as not applicable by Orphanet [1]; the concordance in monozygotic twins described in two reports suggests a genetic contribution, but does not allow an empirical risk to be estimated for siblings or offspring [10, 21]. In the absence of other affected relatives and of a syndromic diagnosis, counselling should explain that cases are usually sporadic and that the available data do not quantify the recurrence risk. The presence of a mosaic candidate variant, such as the SHH variant described by Sinner and colleagues, points to a post-zygotic event, with no demonstrated implication for the parents [2].

8.2. Syndromic forms

In the craniosynostoses due to FGFR2, FGFR3 or TWIST1, inheritance is autosomal dominant; most severe cases result from de novo variants, and an affected parent has a 50% probability of transmitting the variant in each pregnancy [6]. Knowledge of the variant makes it possible to anticipate the risk of a tracheal sleeve, which is very high with FGFR2 p.Trp290Cys [5]. In Myhre syndrome, inheritance is autosomal dominant and almost always de novo, of paternal origin and associated with advanced paternal age in the variants studied [15]. In geleophysic dysplasia due to ADAMTSL2, inheritance is autosomal recessive and each sibling of a patient has a 25% risk when both parents are heterozygous; in the FBN1 and LTBP3 forms, which are autosomal dominant, all probands whose parents were tested had a de novo variant [16]. In Mowat-Wilson syndrome, the ZEB2 variant or the 2q22.3 deletion usually arises de novo [14]. Counselling for trisomy 21 and 22q11.2 deletion follows the specific rules of each condition.

8.3. Tracheal agenesis, VACTERL and oesophageal atresia

Tracheal agenesis is sporadic in the published series, with no identified gene; the de novo 5q11.2 deletion in one patient illustrates the possibility of rare chromosomal causes, and microarray analysis is justified in a patient with associated malformations [8, 18]. About 90% of VACTERL cases appear sporadic, with a low recurrence risk [127], although there are families with vertical transmission [128]. The Oxford Desk Reference gives for the VATER/VACTERL association an incidence of 1.6 per 10,000, usually sporadic and with a low recurrence risk; following Hall, it proposes at least one anomaly of the limbs, the thorax and the pelvis or lower abdomen for a secure diagnosis [129, 130]. When the association is accompanied by hydrocephalus, the differential diagnosis includes the X-linked forms due to FANCB and ZIC3 (the latter with possible heterotaxy), and in Fanconi anaemia the VACTERL phenotype is more often associated with BRCA2 variants, which alters the recurrence risk and follow-up [131, 132]. In oesophageal atresia with tracheo-oesophageal fistula, recurrence fits a multifactorial model, with rare families with vertical transmission [133]; the empirical estimates of Shaw-Smith come from offspring of isolated and non-isolated cases, and the risk in isolated cases may be lower [23].

8.4. Prenatal diagnosis

When the syndromic variant is known in the family, prenatal diagnosis and preimplantation genetic testing are technically possible for the monogenic and chromosomal forms [6, 15]. For isolated stenosis there is no prenatal test. Level II ultrasound with fetal echocardiography can identify heart disease, vascular ring and polyhydramnios in a pregnancy at risk of 22q11.2 deletion syndrome [13], and fetal MRI can establish the diagnosis of tracheal agenesis when there is CHAOS or polyhydramnios with other malformations [8].

9. Special Considerations: Population Diversity and Epidemiology

9.1. Frequency

The available estimates are few and measure different things. Orphanet records a birth prevalence of 1.6 per 100,000 in Canada, originating from the Toronto review by Herrera and colleagues, and considers the point prevalence unknown [1, 33]. Several series cite an incidence of 1 in 64,500 [4, 24, 32], the Portuguese report cites a range of 0.2 to 2 per 100,000 live births [25], and the review on Down syndrome cites 0.002% in the general population [12]. In Down syndrome, symptomatic congenital stenosis is estimated at 0.4%, and 2.8–5% of children with symptoms or bronchoscopy have congenital stenosis [12]. Congenital tracheal stenosis accounts for 0.3–1% of all paediatric laryngotracheal stenoses [4]. Tracheal agenesis is estimated at 1 per 50,000 newborns, and Orphanet records for Europe a birth prevalence in the class of 1–9 per 100,000 [7, 8]. The cartilaginous sleeve had a prevalence of 22% (19 of 86) in a syndromic craniosynostosis cohort from the five-state region served by Seattle Children's Hospital, a value the authors consider conservative, because only patients with a clinical indication were assessed, and which rises to 61% among those assessed [5]. These figures come from hospital series or cited estimates, not from national population registries.

9.2. Geographical and population data

Most of the evidence comes from centres in the USA (Cincinnati, Chicago, Boston, Philadelphia, Seattle), Europe (GOSH in London, Lausanne, Amsterdam), Canada and Japan and China [4, 8, 24, 29, 33, 112, 124]. In the Cincinnati series, 62.2% of patients were of European ancestry and 15.5% African American [24]. No founder populations or founder variants were identified in the sources. In Portugal, the information found is limited to the Lisbon case described in section 10 [25]; the sources consulted do not include data from Brazil. In low- or middle-income countries, limited access to prenatal ultrasound and CT, and confusion with tuberculosis and viral infections, delay diagnosis [93]. Reports of tracheal agenesis show a male predominance (65–69%) [8, 27], and the review by Ywakim and El-Hakim showed a male:female ratio of 1.7:1 in stenosis [94].

9.3. Special populations

Children with Down syndrome have a narrower trachea, more tracheomalacia and tracheal bronchus, and a higher frequency of tracheostomy and tracheoplasty; their quality of life after slide tracheoplasty was lower than that of children with isolated stenosis, as is the case with non-cardiac congenital comorbidities in general [12, 134]. Preterm infants made up 21.6% of the Cincinnati series [24].

9.4. Reference networks and patient associations

ERN CRANIO, the European reference network for craniofacial anomalies and rare or complex ear, nose and throat disorders, has a working group dedicated to the difficult airway («Difficult Airway»), coordinated from Erasmus MC, in Rotterdam [36]. ERNICA, the network for rare inherited and congenital anomalies, has published consensus statements on oesophageal atresia and tracheo-oesophageal fistula that apply when these coexist [37]. The GOSH tracheal service maintains information for parents and a support group for parents of children with long-segment tracheal stenosis [135]. The sources consulted did not identify a patient association dedicated to complete tracheal rings in Portugal or Brazil.

10. Illustrative Clinical Case

Duarte and colleagues, from the Respiratory Medicine department of Hospital de Santa Marta (Unidade Local de Saúde São José, Lisbon), published in 2025 the case of a 20-year-old woman with diffuse congenital tracheal stenosis followed since childhood [25]. She had been diagnosed in the first year of life with a congenital cardiovascular malformation and pulmonary artery sling, surgically corrected at 3 months. Shortly afterwards she began to have choking episodes, which raised the suspicion of an associated airway anomaly. At 5 years, followed in a paediatric respiratory clinic, a chest radiograph showed narrowing of the tracheal lumen. During childhood she had no recurrent respiratory infections, but developed episodes of dyspnoea and stridor with moderate exertion, progressively more frequent, with partial improvement after a trial of inhaled corticosteroid.

At 13 years, respiratory function tests showed an obstructive pattern without response to bronchodilator, with a forced vital capacity of 2500 ml (92% predicted), forced expiratory volume in the first second of 1890 ml (70%), a ratio between the two of 76% and a mean forced expiratory flow of 1650 ml (51%), and flattening of the inspiratory and expiratory curves, characteristic of fixed obstruction. CT showed a circular trachea with posterior indentation and a mean diameter of 6 to 8 mm, with segmental bronchi of slightly smaller calibre than the accompanying vessels, and flexible bronchoscopy confirmed complete rings and diffuse narrowing [25]. No genetic investigation was described.

At 19 years, at the transition to adult respiratory medicine, she reported daily stridor and exertional dyspnoea, with partial relief from inhaled bronchodilators; forced expiratory volume in the first second was 2050 ml (68%), mean forced expiratory flow 1580 ml (43%) and the curves remained flattened. CT showed stable diffuse narrowing of the thoracic trachea with a minimum diameter of 6 to 7 mm, and bronchoscopy showed complete rings along the whole trachea, without focal areas amenable to endoscopic intervention. On the 6-minute walk test she covered 425 m (70% predicted), with peripheral oxygen saturation of 96% at rest and 93% at the end. After multidisciplinary discussion with thoracic surgery, weighing clinical stability against the surgical risk of tracheoplasty in a diffuse and extensive stenosis, regular surveillance and symptomatic treatment were chosen [25].

The figures in the article show the flow-volume curves at 13 and 19 years (https://pmc.ncbi.nlm.nih.gov/articles/PMC12740944/figure/FIG1/), coronal and sagittal CT at both ages (https://pmc.ncbi.nlm.nih.gov/articles/PMC12740944/figure/FIG2/) and bronchoscopy of the upper third of the trachea and the carina (https://pmc.ncbi.nlm.nih.gov/articles/PMC12740944/figure/FIG3/) [25]. The case illustrates three points: the sling may be corrected without tracheoplasty when the stenosis is not critical, but later respiratory symptoms require the trachea to be reassessed; respiratory function tests with a flow-volume curve help to distinguish fixed obstruction from asthma and to monitor progression; and a diffuse stenosis with a calibre of 6 to 7 mm and good exercise tolerance can be kept under surveillance in adulthood. The lack of consensus on follow-up intervals in adults is acknowledged by the authors, and the management described corresponds to an individual decision, not a general recommendation [25].

11. Prognosis and Long-Term Follow-up

11.1. Prognosis

Survival after slide tracheoplasty in contemporary series lies between 82% and 97%, depending on the period, patient complexity and length of follow-up: 88.2% at GOSH between 1995 and 2012 and 97% after 2013; 93% in hospital, 88% at 5 years and 86% at 10 years in the Cincinnati series of 227 patients; 82.3% at 1 year in the series of 148 patients from the same centre [24, 29, 95, 109]. Hospital mortality in the meta-analysis was 6.1%, and overall mortality 9.7% [116]. The determinants of a worse prognosis are a single lung, complex heart disease, ECMO, malacia and bronchial extension (section 7.8). Hewitt and colleagues report long-term survival above 88% and normalisation of quality of life in patients with non-syndromic stenosis [105]. In 42 GOSH children, overall quality of life did not differ from the norms except between 13 and 23 months, but 24% had values more than two standard deviations below the mean, and children with non-cardiac congenital comorbidities had lower scores than those with isolated stenosis (60.34 ± 17.19 versus 85.52 ± 12.19) [134]. In 62 Japanese patients, quality of life was favourable overall and similar to that of healthy children, and respiratory symptoms and voice changes (high VHI-30 index) were the main factors associated with worse quality of life [124]. Postoperative dysphagia affected 70% of the patients assessed at GOSH [114].

In the cartilaginous sleeve, the prognosis depends on protection of the airway, with 90% mortality by 2 years without tracheostomy in the meta-analysis of published cases, which probably overestimates the risk because it includes symptomatic cases and cases diagnosed at autopsy [5, 31]. In tracheal agenesis, mortality is very high: 41.3% of children did not survive the first 24 hours and only 8.4% lived beyond 3 months in the review of 149 cases, and 85% died in the first 2 days in the 2005–2010 review [8, 27]; the long-term survivors described depend on gastrostomy and have moderately delayed to borderline physical development [35]. In Myhre syndrome, the stenosis may progress and recur after manipulation [15], and in geleophysic dysplasia the obstruction is often progressive [16].

11.2. Surveillance

The sources do not define a validated long-term surveillance schedule; the intervals in the table correspond to the protocols and recommendations described in the sources cited.

12. Summary and Final Considerations

Congenital tracheal stenosis results, in the vast majority of cases, from complete cartilaginous rings that replace the posterior membranous wall of the trachea and form a rigid tube that does not keep pace with growth. It is rare, with a birth prevalence estimated at 1.6 per 100,000 in Canada and cited estimates of about 1 in 64,500, and is associated in more than half of operated patients with congenital heart disease, with left pulmonary artery sling as the most characteristic anomaly. Tracheal bronchus, trifurcation of the carina, pulmonary agenesis or hypoplasia and Down syndrome are also associated. The genetic basis of the isolated form is not established: concordance in monozygotic twins and an exome study in five trios, with a mosaic SHH variant and variants in genes of the Hedgehog and Wnt pathways, suggest alterations of dorsoventral patterning of the tracheal mesenchyme, but the variants described remain candidates.

The class includes entities with distinct mechanisms that must be recognised because of their impact on treatment. The cartilaginous sleeve of the craniosynostoses linked to FGFR2, FGFR3 and TWIST1 affects about one fifth of children with syndromic craniosynostosis and all children with FGFR2 p.Trp290Cys in a regional cohort, and carries a risk of sudden death from mucus plugging that tracheostomy reduces. Myhre syndrome causes fibroproliferative stenosis aggravated by trauma, in which tracheal resection is contraindicated. Geleophysic dysplasia and the mucopolysaccharidoses cause progressive stenosis. Tracheal agenesis, with associated malformations in more than 80% of patients, retains very high neonatal mortality, and its prenatal diagnosis is only possible when there is no tracheo-oesophageal fistula.

Diagnosis rests on endoscopy with minimum-calibre instruments, CT with three-dimensional reconstruction and a systematic search for heart disease and sling, with genetic investigation directed at the phenotype. Slide tracheoplasty, with simultaneous correction of cardiovascular anomalies on cardiopulmonary bypass, is the technique of choice for symptomatic long stenosis, with pooled hospital mortality of about 6% and 10-year survival of 86% in the largest North American series; resection with anastomosis serves short stenosis, and mild forms can be kept under surveillance. Endoscopic reinterventions, dysphagia and residual malacia are frequent, and long-term quality of life is close to normal in isolated stenosis and lower when there are congenital comorbidities. There are no targeted pharmacological therapies or randomised trials, and the international IPOG consensus and the large series from referral centres support the centralisation of care in multidisciplinary teams.

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