Congenital tracheal stenosis

Summary

Congenital tracheal stenosis (MONDO:0011340) is a disease. A subtype of otorhinolaryngologic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Canada) [Orphanet-validated]
• Phenotypes (HPO): 36

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	1.6	Canada	Validated

Signs & symptoms

Clinical features (HPO)

36 HPO clinical features (Orphanet curated; top 36 by frequency):

HPO ID	Term	Frequency
HP:0001612	Weak cry	Very frequent (80-99%)
HP:0001561	Polyhydramnios	Frequent (30-79%)
HP:0002098	Respiratory distress	Frequent (30-79%)
HP:0002778	Abnormal trachea morphology	Frequent (30-79%)
HP:0005607	Abnormal tracheobronchial morphology	Frequent (30-79%)
HP:0011661	Anomalous origin of left pulmonary artery from ascending aorta	Frequent (30-79%)
HP:0030680	Abnormal cardiovascular system morphology	Frequent (30-79%)
HP:0030828	Wheezing	Frequent (30-79%)
HP:0030923	5-minute APGAR score of 3	Frequent (30-79%)
HP:0000069	Abnormality of the ureter	Occasional (5-29%)
HP:0000077	Abnormality of the kidney	Occasional (5-29%)
HP:0000119	Abnormality of the genitourinary system	Occasional (5-29%)
HP:0000363	Abnormality of earlobe	Occasional (5-29%)
HP:0000961	Cyanosis	Occasional (5-29%)
HP:0001562	Oligohydramnios	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0001643	Patent ductus arteriosus	Occasional (5-29%)
HP:0001791	Fetal ascites	Occasional (5-29%)
HP:0002023	Anal atresia	Occasional (5-29%)
HP:0002088	Abnormal lung morphology	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0002101	Abnormal lung lobation	Occasional (5-29%)
HP:0002245	Meckel diverticulum	Occasional (5-29%)
HP:0002247	Duodenal atresia	Occasional (5-29%)
HP:0002575	Tracheoesophageal fistula	Occasional (5-29%)
HP:0002577	Abnormal stomach morphology	Occasional (5-29%)
HP:0004935	Pulmonary artery atresia	Occasional (5-29%)
HP:0005151	Preductal coarctation of the aorta	Occasional (5-29%)
HP:0012718	Morphological abnormality of the gastrointestinal tract	Occasional (5-29%)
HP:0012768	Neonatal asphyxia	Occasional (5-29%)
HP:0031935	Ascending aorta hypoplasia	Occasional (5-29%)
HP:0100867	Duodenal stenosis	Occasional (5-29%)
HP:0000707	Abnormality of the nervous system	Very rare (<1-4%)
HP:0002781	Upper airway obstruction	Very rare (<1-4%)
HP:0004383	Hypoplastic left heart	Very rare (<1-4%)
HP:0025426	Abnormal bronchus morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital tracheal stenosis
Mondo ID	MONDO:0011340
MeSH	C566362
OMIM	603569
Orphanet	141127
ICD-11	2095672409
SNOMED CT	9660004
UMLS	C0265767
MedGen	120556
GARD	0012008
Is cancer (heuristic)	no

Disease family

This is a subtype of otorhinolaryngologic disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › otorhinolaryngologic disease › congenital tracheal stenosis

Related subtypes (39): bifid nose, autoimmune disease of ear, nose and throat, nasal disorder, atresia of external auditory canal and conductive deafness, external auditory canal atresia-vertical talus-hypertelorism syndrome, laryngeal abductor paralysis, larynx atresia, congenital velopharyngeal incompetence, microtia, laryngeal neuroendocrine neoplasm, arrhinia, laryngotracheal angioma, epignathus, nasolacrimal duct cyst, polyrrhinia, supernumerary nostril, proboscis lateralis, nasal glial heterotopia, nasal ganglioglioma, nasal encephalocele, isolated congenital syngnathia, cysts and fistulae of the face and oral cavity, isolated congenital nasal pyriform aperture stenosis, congenital nasal pyriform aperture stenosis with holoprosencephaly, middle ear anomaly, idiopathic bilateral vestibulopathy, mal de Debarquement, juvenile nasopharyngeal angiofibroma, tracheal agenesis, semicircular canal dehiscence syndrome, hereditary otorhinolaryngologic disease, supratip dysplasia, recurrent respiratory papillomatosis, silent sinus syndrome, anotia, congenital tracheomalacia, disorder of pharynx, disorder of ear, lip and oral cavity squamous cell carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.