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Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)
Genetics:
- associated with defects in sox10
- associated with defects in EDNRB
- associated with defects in EDN3
Clinical manifestations:
- characterized by the association of Waardenburg syndrome features (depigmentation & deafness) & the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)
- neurologic variant (PCWH) is a rare, complex & more severe neurocristopathy that includes features of 4 distinct syndromes:
- P - peripheral demyelinating neuropathy
- C - central dysmyelinating leukodystrophy,
- W - Waardenburg syndrome
- H - Hirschsprung disease
General
Waardenburg syndrome
Database Correlations
OMIM 277580
References
UniProt :accession P56693