Craniofacial-deafness-hand syndrome
Synonyms: CDHS | Craniofacial-hearing loss-hand syndrome | Sommer-Young-Wee-Frye syndrome
A rare autosomal dominant multiple congenital anomalies syndrome characterized by facial dysmorphism (flat facial profile with normal calvarium hypertelorism small downslanting palpebral fissures hypoplastic nose with button tip and slitlike nares and small pursed mouth) profound sensorineural deafness ulnar deviations and contractures of the hand. This disorder is allelic to Waardenburg syndrome and distinguished by the imaging findings and distinct facial features.
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 October 2023.
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Craniofacial-deafness-hand syndrome?
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