Craniofacial-deafness-hand syndrome

Definition:

Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation in the PAX3 has been detected in patients with the disease.

References:

[1]. A Sommer, et al. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet. 1983 May;15(1):71-7. [Content Brief]

[2]. Annemarie Sommer, et al. Craniofacial-deafness-hand syndrome revisited. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. [Content Brief]

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