Deafness-onychodystrophy syndrome

Orpha code: 3231OMIM code: 220500

Definicja

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
Klasyfikacja

Clinical group

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

No additional description.

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