Waardenburg syndrome

Definition
Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color).

Causes, incidence, and risk factors

Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.)

The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism. The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light-blue eyes, or two different colored eyes. Affected individuals may also have wide separation of the inner corners of the eyes, a broad nasal bridge, and other color changes of the skin.

Waardenburg syndrome affects about 1 in every 30,000 people. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child.

Symptoms

     
  • family history of parent with Waardenburg syndrome  
  • extremely pale blue eyes or eye colors don’t match (heterochromia)  
  • white forelock of hair or early graying of the hair  
  • deafness (variable degree)  
  • possible slight decrease in intellectual functioning  
  • occasional cleft lip  
  • constipation may occur  
  • may have difficulty with completely straightening joints (contracture)

Signs and tests
Examination may show various abnormalities, including:

     
  • lateral displacement of inner canthi (corners of eye)  
  • eyebrows flare in the midline  
  • broad nasal bridge  
  • deafness (may or may not be present)  
  • pale to white portions of eye including back of the eye  
  • small or under-developed bones of the face  
  • white patches of skin

Tests:

     
  • audiometry (hearing evaluation)  
  • genetic testing of the PAX3 gene on chromosome 2q35  
  • genetic testing of the MITF gene (type 2 Waardenburg syndrome) on chromosome 3p13  
  • tests may show that stool doesn’t move through the large bowel normally  
  • biopsy of the colon may show no neural ganglia (Hirschsprung disease) in type 4 patients  
  • genetic testing of the endothelin-3, endothelin receptor B or SOX10 gene in patients with Waardenburg syndrome type 4.

Treatment
No specific treatment is available for Waardenburg syndrome. Attention must be paid to any hearing deficits and hearing aids and appropriate schooling may need to be provided. Type 4 patients with constipation require special attention to their diet and medications to keep their bowels moving.

Expectations (prognosis)
With correction of hearing deficits, affected people should be able to lead a normal life.

Complications

     
  • hearing loss  
  • self esteem or other problems related to cosmetic appearance  
  • constipation may be severe requiring part of large bowel to be removed  
  • slight increased risk for muscle tumor called rhabdomyosarcoma  
  • slight decreased intellectual functioning (possible, unusual)

Calling your health care provider
Genetic counseling may be helpful if you have family history of Waardenburg syndrome and plan to have children. Call for a hearing test if you or your child has deafness or decreased hearing.

Prevention
Genetic counseling may be valuable for prospective parents with a family history of Waardenburg syndrome.

Johns Hopkins patient information

Last revised: December 2, 2012
by Arthur A. Poghosian, M.D.

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