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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
  • ICD-11: LD2H.Y
  • OMIM: 122880
  • UMLS: C1852510
  • MeSH: C536453
  • GARD: 1571
  • MedDRA: -

  A summary on this disease is available in Deutsch (2005) Español (2005) Français (2005) Nederlands (2005) Italiano (2015)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.