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Craniofacial-deafness-hand syndrome

Synonym(s) CDHS
Sommer-Young-Wee-Frye syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q87.0
  • C1852510
  • C536453
MedDRA -


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.

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