LD2H.3 Waardenburg-Shah syndrome

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.

synonyms

• Waardenburg-Shah syndrome
• Waardenburg syndrome type 4A
• Hirschsprung disease with pigmentary anomaly
• Waardenburg-Shah syndrome, neurologic variant

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