" /> Waardenburg syndrome, type 2b - CISMeF





Preferred Label : Waardenburg syndrome, type 2b;

Symbol : WS2B;

CISMeF acronym : WS2B;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Waardenburg syndrome, type iib;

Description : Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).;

Inheritance : Autosomal dominant not linked to PAX3 or 2q35;

Prefixed ID : %600193;

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07/07/2025


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