Deafness-onychodystrophy syndrome

Orpha code: 3231OMIM code: 220500

Definition

Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.

Disease data
Classification

Clinical group

Synonyms
Hearing loss-onychodystrophy syndrome
Zespół autosomalnie dominującej głuchoty i onychodystrofii
Zespół DDOD
ORPHA code
3231
OMIM code
220500
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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