External auditory canal aplasia/hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: External auditory canal stenosis/atresia
Number of Symptoms 7
OrphanetNr: 141074
OMIM Id: 108760
ICD-10: Q16.1
UMLs:
MeSH:
MedDRA:
Snomed:

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: Pinnae and external auditory canal anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005906) Delayed pneumatization of the mastoid process 1 / 7739
2
(HPO:0000402) Stenosis of the external auditory canal 22 / 7739
3
(HPO:0008773) Aplasia/Hypoplasia of the middle ear 2 / 7739
4
(HPO:0000413) Atresia of the external auditory canal 32 / 7739
5
(HPO:0000405) Conductive hearing impairment 164 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) External auditory canal stenosis/atresia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hefter and Ganz (1969) described a woman and 3 of her 4 children with atresia of the external auditory canal and conductive deafness. The bony stenosis of the external meatus was so marked that the eardrums were not ...