Congenital laryngeal web
General Information (adopted from Orphanet):
Synonyms, Signs: |
SUBGLOTTIC WEB GLOTTIC WEB, CONGENITAL ANTERIOR SUBGLOTTIC BAR |
Number of Symptoms | 15 |
OrphanetNr: | 2374 |
OMIM Id: |
150360
|
ICD-10: |
Q31.0 |
UMLs: |
C0152416 |
MeSH: |
|
MedDRA: |
10023871 |
Snomed: |
47070001 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Larynx anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
(HPO:0002788) | Recurrent upper respiratory tract infections | 31 / 7739 | ||||
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
(HPO:0004760) | Congenital septal defect | Very frequent [Orphanet] | 69 / 7739 | |||
|
(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
|
(HPO:0001608) | Abnormality of the voice | Very frequent [Orphanet] | 126 / 7739 | |||
|
(HPO:0005950) | Laryngeal web | 5 / 7739 | ||||
|
(HPO:0010307) | Stridor | 19 / 7739 | ||||
|
(HPO:0001609) | Hoarse voice | 34 / 7739 | ||||
|
(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
|
(HPO:0002098) | Respiratory distress | 75 / 7739 | ||||
|
(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(OMIM) | Hoarse or weak voice | 1 / 7739 | ||||
|
(OMIM) | Congenital anterior laryngeal (glottic) web | 1 / 7739 | ||||
|
(OMIM) | Unusual cry | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Congenital laryngeal (glottic) webs are uncommon, membrane-like structures that extend across the laryngeal lumen near the level of the vocal cords. They are thought to result from incomplete resorption of an epithelial layer that normally obliterates the developing ... |
Clinical Description OMIM |
Cohen (1985) divided laryngeal (glottic) webs into 4 types based on their appearance and an estimation of the degree of airway obstruction. Type 1 glottic webs are uniform in thickness with no subglottic extension; they compromise less than ... |