Birth Defect: Waardenburg Syndrome
Waardenburg syndrome (WS) is an inherited disorder named after Petrus Johannes Waardenburg, a Dutch ophthalmologist who first noticed that patients with differently colored eyes often also had a hearing impairment.
It affects about 1 in 50,000 births and is present, though not always observable at birth. Both boys and girls of any race are equally affected.
There are four types of Waardenburg syndrome. Patients with WS1 have an unusually wide space (broad nasal root) between the inner corners of their eyes. About 20 percent of patients with WS1 also have hearing impairments. Patients who do not have the broad nasal root, but exhibit other WS symptoms are said to have WS2 and about 50 percent of those have a hearing impairment or are deaf.
WS3, also known as Klein-Waardenburg syndrome, is very rare and happens when two copies of the gene come together resulting in severe upper-limb defects (MedicineNet.com). WS4 (Waardenburg-Shah syndrome) is also seen in association with Hirschsprung disease, combining Waardenburg syndrome symptoms and digestive issues (vomiting, abdominal distention and constipation or intestinal obstruction).
Symptoms of Waardenburg Syndrome
The most common symptoms amongst the four types are hearing loss and changes in skin and hair pigmentation, specifically a “white forelock” or premature greying of the hair (sometimes as early as age 12, but before the age of 30).
Other symptoms may include:
- Extremely pale blue eyes or eye colors that don’t match (irises may have two colors)
- Pale color skin, hair, and eyes (partial albinism)
- Wide-set eyes
- Difficulty completely straightening joints
- Possible slight decrease in cognitive function (UMMC)
Each patient will have different variations and severity of symptoms.
Research has identified which genes and mutations of the genes result in this syndrome. Research continues into how the mutations occur and how to screen, treat or prevent the syndrome from being passed on.
While currently there is no known cure, “[f]olic acid supplementation in pregnancy has been recommended for women at increased risk of having a child with WS.” (Egbalian)
Darlene Oakley is a freelance writer for EmpowHER.com.
Waardenburg Syndrome. National Institutes of Health: National Institute on Deafness and Other Communication Disorders. Web. Mar 26, 2012.
Definition of Waardenburg syndrome. MedicineNet.com. Web. Mar 26, 2012.
Waardenburg syndrome – Symptom. University of Maryland Medical Center. Web. Mar 26, 2012.
“Waardenburg- Shah Syndrome; A Case Report and Review of the Literature” Egbalian, Fatemeh, MD. Iran Journal of Pediatrics. Iran J Ped Mar 2008; Vol 18 ( No 1), Pp:71-74. Web. Mar 26, 2012.