Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Chronic constipation

Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.


Total: 1

                      


(per page)
PMID (PMCID)
24582978
FEMALE
Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
Arimoto Y, Namba K, Nakano A, Matsunaga T.
Gene. 2014;540(2):258-62.
Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome.