Waardenburg Syndrome: A Case Report

Abstract

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair.
 Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Waardenburg Syndrome Type 1: A Case Report

“…As a result of the clinical and genetic anomalies, there are four distinct kinds of Waardenburg syndrome. These are WS1, WS2, WS3, and WS4 (Sadiq et al, 2019). Forelock whitened, sensorineural hearing loss, skin depigmentation, and premature graying of hair were all seen in this 7-month-old kid with WS1.…”

“…Dystopia canthorum is missing in WS2, but it is present in WS3, with the exception of the existence of upper limb deformities, which is the sole difference between the two. Due to its long association with Hirschsprung illness, the Waardenburg-Shah Syndrome (WS4) may be easily diagnosed (Sadiq et al, 2019). Congenital deafness is caused by WS, an auditory-pigmentary condition that affects 2%-3% of the population.…”