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craniofacial-deafness-hand syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.
Mondo Term and Equivalent IDs
MONDO:0007395:  craniofacial-deafness-hand syndrome
DOID:0111336: 
GARD:0001571: 
MESH:C536453: 
Orphanet:1529: 
SCTID:702362004: