Craniofacial-deafness-hand syndrome

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Craniofacial-deafness-hand syndrome

Synonyms: CDHS | Craniofacial-hearing loss-hand syndrome | Sommer-Young-Wee-Frye syndrome

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium hypertelorism small downslanting palpebral fissures with an antimongoloid slant hypoplastic nose with button tip and slitlike nares and small pursed mouth) profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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