Waardenburg syndrome type 4

Disease Overview

Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome type 4 is further divided into types 4A, 4B, and 4C based on their genetic cause. Type 4A is caused by mutations in the EDNRB gene, mutations in EDN3 cause 4B, and mutations in SOX10 cause type 4C. This condition is usually inherited in an autosomal dominant fashion; however, some cases of type 4 appear to have an autosomal recessive pattern of inheritance.[816][3312]

Synonyms

• Waardenburg-Shah syndrome
• WS4
• Waardenburg-Hirschsprung disease
• Shah-Waardenburg syndrome
• Hirschsprung disease with pigmentary anomaly
• Waardenburg-Hirschsprung syndrome