What is Waardenburg Syndrome?
Waardenburg syndrome is an inherited disorder that affects about 1 in every 50,000 births, and boys and girls of any race equally. (4) The specific symptoms and clinical presentation of a child with Waardenburg syndrome will differ from patient to patient.
Types of Waardenburg Syndrome
There are four types of Waardenburg syndrome:
WS1 - This type features an unusually wide space (broad nasal root) between the eyes. About 20 percent of patients also have hearing impairment.
WS2 - When other WS symptoms are present without the wide-set eyes, patients are considered to have WS2. Approximately 50 percent of WS2 patients have a hearing impairment or are deaf.
WS3 - WS3 is also called Klein-Waardenburg syndrome. It is very rare. Patients present with severe upper limb defects. (5)
WS4 - WS4 is also known as Waardenburg-Shah syndrome. It may also combine with Hirschsprung disease, which can cause blockages of the large intesting, vomiting, abdominal distention, and constipation, in addition to Waardenburg symptoms.(6)
Symptoms of Waardenburg Syndrome
The most common symptoms amongst the four types are hearing loss, different colored eyes (usually one blue and one brown) 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
• Pale color skin, hair, and eyes (partial albinism)
• Wide-set eyes
• Low frontal hairline or joining eyebrows
• Difficulty completely straightening joints
• Possible slight decrease in cognitive function (1, 3)
You can see a picture of a child with Waardenburg Syndrome here.
While researchers have identified the genes and gene mutations that cause this syndrome, they still don’t know how or why the mutations occur in the first place.