Waardenburg syndrome, type 4A

Common Name(s)

Waardenburg syndrome, type 4A

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). WS type 4A is caused by mutation in the EDNRB gene ({131244}). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by {23:Read and Newton, 1997} and {21:Pingault et al., 2010}). Genetic Heterogeneity of Waardenburg Syndrome Type 4 Waardenburg syndrome type 4 is genetically heterogeneous. WS4B ({613265}) is caused by mutation in the EDN3 gene ({131242}) on chromosome 20q13, and WS4C ({613266}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13.
 

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