Details of Disease

General Information of Disease (ID: DISZ1RQ0)

• Disease Name: Craniofacial-deafness-hand syndrome
• Synonyms: features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss; craniofacial deafness hand syndrome; CDHS; craniofacial-deafness-hand syndrome; Sommer-Young-Wee-Frye syndrome
• Definition: Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISZ1RQ0: Craniofacial-deafness-hand syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007395
  MESH ID: C536453
  UMLS CUI: C1852510
  OMIM ID: 122880
  MedGen ID: 377694
  Orphanet ID: 1529
  SNOMED CT ID: 702362004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX3	OTN5PJZV	Definitive	Autosomal dominant	[1]

References

• [1] Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet. 1983 May;15(1):71-7. doi: 10.1002/ajmg.1320150109.