Cleft Lip Palate Oligodontia Syndactyly Pili Torti
Type of disease: Rare conditions
Also called Zlotogora-Ogur syndome or Margarita Island ectodermal dysplasia, Cleft lip and/or palate syndactyly pili torti is a genetic disorder found almost exclusively on Maragarita Island. Children present with noticeably few and twisted hairs, dry skin, abnormal teeth, webbed fingers, and facial abnormalities like cleft lip. Zlotogora-Ogur may include intellectual disability or deafness as well. The condition is caused by a change in the PVRL1 (11q23-q24) gene, weakening the functionality of molecules which build hair, nails, and teeth.