Waardenburg syndrome: case series

Sheenu Sachdeva, Varunkumar Jayakumar, Shubhlaxmi Atmaram Jaiswal


Waardenburg syndrome is a rare genetic disorder of neural crest cell development with incidence of 1:42000 to 1:50,000. The syndrome is not completely expressed and hence adds to its hetergenecity with symptoms varying from one type of syndrome to another and from one patient to another. Unilateral heterochromia that manifests in some people is associated with Waardenburg syndrome and Parry-Romberg syndrome. This is a case series of four cases with features of Waardenburg syndrome with variable presentations and familial inheritance.


Autosomal dominant deafness, Heterochromia, Pigmentation anomalies, Waardenburg syndrome

Full Text:



Waardenburg PJ. A new syndrome combining developmental anomalies of eye lids, eye brows and nasal root with pigmentary defects of iris and head hair with congential deafness. Am J Hum Genet. 1951;3:195-253.

Fauci, Braunwald, Kasper, Hauser, Longo, Jameson, Loscalzo. Harrison's Internal Medicine. 17th ed. McGraw Hill; 2008. Gene mutation. 2008;201-325.

National Institute of Deafness and Other Communication Disorder – USA NIH Pub. No. 199:91-3260.

Kliegman, Behraman, Jenson S. Nelson Text Book of Pediatrics. 18th ed. Vol. 2. W.B Saunders Company. 2007: 2683.

Arias S. Genetic heterogenecity in the Waardenburg syndrome. Birth Defects Orig Artic Ser. 1971;07:87-101.

Saqib Z, Rani Z. Waardenburg syndrome: A case series. J Pakistan Assoc Dermatologists. 2017;27(4):397-400.

Pattebahadur R, Singhi S, Maharana PK. Waardenburg-Shah Syndrome: a rare case in an Indian child Case Reports. 2016;2016: bcr2016216366.

Sharma K, Arora A. Waardenburg Syndrome: A Case Study of Two Patients. Indian J Otolaryngol Head Neck Surg. 2015;67(3):324-8.

Korday C, Bhaisara B, Shah D, Shinde S, Vasu NSK, Kumar S. Waardenburg Syndrome: a rare genetic disorder in four generations of a family. Int J Contemp Pediatr 2019;6:2733-7.