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A rare case of Waardenburg syndrome type 4.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, 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 dominantfashion; however, some cases of type 4 appear to have an autosomal recessivepattern of inheritance.
Symptoms include:Abnormal macular morphology,abnormality of vision,aganglionic megacolon,hearing impairment and constipation.
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