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Definition

A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).

Acronym

WS4B

Synonyms

Hirschsprung disease with pigmentary anomaly
Shah-Waardenburg syndrome
Waardenburg-Shah syndrome
Waardenburg syndrome type IVB
Waardenburg syndrome with Hirschsprung disease type 4B

Keywords

Hirschsprung disease
Waardenburg syndrome

 
Disclaimer

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