Orphanet: Deafness ear malformation facial palsy syndrome
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Deafness-ear malformation-facial palsy syndrome

Disease definition

Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.

ORPHA:3232

Classification level: Disorder
  • Synonym(s):
    • Hearing loss-ear malformation-facial palsy syndrome
    • Sellars-Beighton syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 124490
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

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