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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1529
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 (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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