Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare. About 1 in 30 students in schools for the deaf have Waardenburg syndrome.
Also known as Klein-Waardenburg syndrome and Waardenburg-Shah syndrome, is a group of conditions that involve deafness and pale skin, hair, and eye colour and is passed down through families.
The disease can be passed on through a faulty gene by only one parent to the child. This is why it is usually referred to be inherited as an autosomal dominant trait.
While Klein-Waardenburg syndrome and Waardenburg-Shah syndrome are known to be Type III and Type IV categories of waardenburg syndrome, they are less common. Type I and II are more common.
How common is Waardenburg syndrome?
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.
Type 4 is rare with only 48 cases reported up to 2002. About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All races and both sexes are affected equally. The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.
Most people with this syndrome lead a normal life after their hearing problem is treated. But people with rarer forms of the syndrome could develop some complications like:
- Constipation severe enough to require part of large bowel to be removed
- Hearing loss
- Self-esteem problems, or other problems related to appearance
- Slight decreased intellectual functioning (possible, unusual)
- Slight increased risk for muscle tumor called rhabdomyosarcoma
Couples with a history of this syndrome may seek genetic counseling when they plan to have children.
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