Waardenburg-Shah syndrome

rare

Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.

Identifiers: MONDO:0019518 Orphanet:897
Part of: Waardenburg syndrome Intestinal motility disease Neurocristopathy
Also known as: Hirschsprung disease with pigmentary anomaly · Shah-Waardenburg syndrome · Waardenburg syndrome type 4 · Waardenburg syndrome type IV · Waardenburg-Hirschsprung disease

Subtypes

All diseases Rare only

Disease

Waardenburg syndrome type 4A MONDO:0010192 EDNRB
Waardenburg syndrome type 4B MONDO:0013201 EDN3
Waardenburg syndrome type 4C MONDO:0013202 SOX10

Projects

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