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Medical condition
Waardenburg syndrome type 1
White forelock hair is shown here. When the Waardenburg syndrome type 1 first was studied, this feature along with the dystopia canthorum was the main focus of the research and identifying factor for patients.
Causes
PAX3 gene mutation
Waardenburg syndrome type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum. Common symptoms of the disease also includes non-progressive hearing loss in majority of patients with type 1. Patients can display complete or partial heterochromia and hypoplastic blue irides and congenital leukemia.[1]
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and 21 Related for: Waardenburg syndrome type 1 information
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"Mild Campomelic Dysplasia: Report on a Case and Review". Mol Syndromol. 1 (4): 163–168. doi:10.1159/000322861. PMC 3042119. PMID 21373255. K. Eger (2005)...
albinism Tyrosinase-positive oculocutaneous albinism Vici syndromeWaardenburgsyndrometype 2A Since there is no cure for albinism, it is managed through...
have a congenital deafness (partial or total) which is similar to Waardenburgsyndrome in humans. Ferrets without white markings, but with premature graying...
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