Orphanet: Autosomal dominant deafness onychodystrophy syndrome

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Autosomal dominant deafness-onychodystrophy syndrome

Disease definition

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.


Classification level: Disorder
  • Synonym(s):
    • DDOD syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 124480
  • UMLS: C2675730
  • MeSH: -
  • GARD: 4732
  • MedDRA: -
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