Table 3.

PAX3 Allelic Disorders

DisorderClinical Characteristics / Comment
Waardenburg syndrome type III (WS3) (OMIM 148820)Characterized by combination of typical WS1 features & hypoplasia or contractures of limb muscles or joints, carpal bone fusion, or syndactyly 1
Craniofacial-deafness-hand syndrome (CDHS) (OMIM 122880)Heterozygous PAX3 pathogenic variants have been identified in persons w/CDHS. CDHS is characterized by flat facial profile, widely spaced eyes, hypoplastic nose w/slit-like nares, sensorineural hearing loss, small maxilla, absent or small nasal bones, & ulnar deviation of hands. The author suggests that CDHS may be genetically heterogeneous.

WS1 = Waardenburg syndrome type 1

1.

In a consanguineous Turkish family, both parents, who are heterozygous for the PAX3 p.Tyr90His pathogenic variant, have WS1; their child, who is homozygous for the PAX3 p.Tyr90His pathogenic variant, has WS3 [Wollnik et al 2003].

From: Waardenburg Syndrome Type I

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