Waardenburg syndrome

Abstract

Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome. One particularly important clinical feature of WS is congenital hearing loss, which may severely handicap a child. A careful clinical description is useful to differentiate between various types of WS and other associated auditory-pigmentary syndromes. Type WS 1, characterized by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene.

Syndrome in Question

“…Waardenburg syndrome (WS) is an inherited disease with an estimated incidence of 1: 42,000 births. 1 , 2 It has 4 clinical variants, which share varying degrees of sensorineural hearing loss and changes in pigmentation.…”

“…It occurs in approximately 20% of patients. 7 About 2% of all cases of congenital deafness are due to the SW. 1 . 4 …”

A Family with Waardenburg Syndrome

“…The nerve cell migration defect can be the reason for the deafness(1). WS Type I and III are attributed to a defect in the PAX 3 gene and Type II to a defect in the MITF (microphtalmia associated transcription factor) (5, 10, 11). Type IV is similiar to Type III, and its inheritance is autosomal recessive.…”

“…Types I, II, and III are autosomally dominant while Type IV is autosomally recessive (1–4). The incidence of WS in the general population is around 1 in 42,000 and is responsible for 1–2% of all congenital deafness (5). Several case reports of Waardenburg syndrome have been published in different literatures (5, 6).…”