Craniofacial-deafness-hand syndrome

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.

Also known as: CDHS, Sommer-Young-Wee-Frye syndrome, craniofacial-deafness-hand syndrome, craniofacial deafness hand syndrome, features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss

0 clinical trials for this condition and its sub-types, 0 tagged with Craniofacial-deafness-hand syndrome itself.