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Craniofacial-deafness-hand syndrome

Disease definition

A rare autosomal dominant, multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural deafness, ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome, and distinguished by the imaging findings and distinct facial features.

ORPHA:1529

Classification level: Disorder
  • Synonym(s):
    • CDHS
    • Craniofacial-hearing loss-hand syndrome
    • Sommer-Young-Wee-Frye syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 122880
  • UMLS: C1852510
  • MeSH: C536453
  • GARD: 1571
  • MedDRA: -
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