Waardenburg syndrome: a rare genetic disorder in four generations of a family

Abstract

Waardenburg Syndrome (WS) is a rare autosomal dominant disorder manifesting with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest derived tissues. A primigravida mother delivered a full term, appropriate for gestational age, 2530 gm female child, by emergency LSCS. Baby was admitted in the NICU in view of features suggestive of Waardenburg syndrome, like white forelock of hair, broad nasal root and hypopigmented patches on the skin for further work up and management. Several members in the family were affected in the last 4 consecutive generations. Our baby was feeding well and discharged home after an uneventful hospital stay. Early diagnosis, detection of findings of hearing loss and the characteristic ophthalmic findings as well as regular follow up is necessary to enable the patient to lead a better quality of life.

Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome

“…Type 4 Waardenburg syndrome is due to mutations in the SOX10, EDN3, or EDNRB genes [4]. Most cases of Waardenburg syndrome types 1 and 2 are inherited as autosomal dominant, type 3 could be sporadic or autosomal dominant, and type 4 is inherited as autosomal recessive [5]. Waardenburg syndrome has a distinctive diagnostic criterion.…”