Iyer Lavanya Ramakrishnan, Amar Taksande
Received: 10 Jan 2023 - Accepted: 20 Apr 2023 - Published: 05 May 2023
Domain: Pediatrics (general)
Keywords: Waardenburg syndrome, forelock, coloboma
©Iyer Lavanya Ramakrishnan et al. Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Cite this article: Iyer Lavanya Ramakrishnan et al. Waardenburg syndrome. Pan African Medical Journal. 2023;45:23. [doi: 10.11604/pamj.2023.45.23.38829]
Available online at: https://www.panafrican-med-journal.com/content/article/45/23/full
Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who first described the syndrome in 1947. Waardenburg syndrome type-2 (WS2) is an autosomal disorder. It is a heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Waardenburg syndrome is classified into 4 mean phenotypes. This syndrome is a result of multiple gene mutations, of which 6 genes are known. It is an auditory-pigmentary syndrome characteristically showing pigmentary abnormalities of the hair, skin and eyes, often associated with sensorineural hearing loss and absence of dystopia canthorum, which differentiates it from Waardenburg type-1. Mutations in the Microphthalmia-associated transcription factor (MITF) gene, which is located on chromosome band 3p14.1-p12.3, cause some cases of WS2 (15%). Our patient here presented at the age of 14 years with ocular abnormalities. On examination, the patient had a white forelock since birth associated with premature graying, right sided microphthalmia with inferior coloboma of iris on the right eye. The patient had no complaints of diminished hearing. Complete vision and hearing evaluation was done, which was normal. Though not genetically determined, the patient was given a working diagnosis of Waardenburg syndrome type 2. Differential diagnoses that can be considered are Piebaldism, Vogt-Koyanagi-Harada disease or Teitze syndrome.
Figure 1: Waardenburg syndrome