External auditory canal aplasia/hypoplasia

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External auditory canal aplasia/hypoplasia

ORPHA:141074Morphological anomaly

Also called External auditory canal stenosis/atresia

What it is

A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.

Key facts

Age of onset
Neonatal
Inheritance
Autosomal dominant
Classified as
Morphological anomaly

Gene

TSHZ1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q16.1ICD-10 names this disease exactly — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MONDO 0015385OMIM 108760OMIM 607842UMLS C0266597

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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