Definition:
Waardenburg Syndrome type 4 or WS4 for brevity or the Waardenberg-Hirschsprung disease, or the Waardenburg-Shah syndrome, is a rare type of Waardenburg Syndrome where the gene affected is the EDNRB or the endothelin-B receptor, the EDN3 or the its ligand or the endothelin-3 and the SOX10 or the SRY-related HMG-box gene 10 that is usually located at the 22q13, 20q13.2-q13.3, 22q13 respectively. Its symptoms includes neurologic manifestations. Waardenburg Syndrome 4 is inherited as an autosomal recessive pattern whereby two copies of the altered gene is needed in order to cause the disorder. Usually, the parents of a person with this autosomal recessive disorder is not affected but is usually has one copy of the altered gene.
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