Craniofacial-deafness-hand syndrome
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Summary
The association of flat facial profile, hypertelorism, congenital absence of nasolacrimal ducts, hypoplastic nose with slitlike nares, and a sensorineural hearing loss was reported in a mother and infant daughter. Subsequently, a boy was born with precisely the same manifestations as his mother and sister. Radiologic findings included small maxilla, absent or small nasal bones, and ulnar deviation of the hands. Neuro-psychological development was normal in all cases. Because of similarities with Waardenburg syndrome type I families, a mutant allele of PAX3 was searched for and found in this family, and the gene was mapped at locus 2q35.
Last update: April 2005
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