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Otofaciocervical syndrome

Disease definition

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

ORPHA:2792

Classification level: Disorder
  • Synonym(s):
    • Fara-Chlupackova syndrome
    • OFC syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 166780  615560
  • UMLS: C1833691  C2931416
  • MeSH: -
  • GARD: 2273  4169
  • MedDRA: -
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