Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome

Abstract

Waardenburg syndrome (WS) is a congenital disorder characterized by sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and irides. There are 4 different clinical types of WS, type I through IV, and their molecular basis is heterogeneous. WS type 4 (Shah-Waardenburg syndrome [SWS]) is characterized by association of the clinical features of classical WS and Hirschsprung disease. SWS is caused by homozygous mutations in the endothelin receptor type B (EDNRB) gene for type 4A, homozygous mutations of the endothelin 3 gene (EDN3) for type 4B, and heterozygous mutations of SOX10 encoding an SRY box 10 transcription factor and leading to defects in neural crest development for type 4C.