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

Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only 1 parent has to pass on the gene for a child to be affected. There are 4 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 2 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 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.

• Family history of parent with Waardenburg syndrome
• Extremely pale blue eyes or eye colors that 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
• Possible difficulty with completely straightening joints (contracture)

Examination may show various abnormalities, including:

• Lateral displacement of inner canthi (corners of eye)
• Eyebrows flare in the midline
• Broad nasal bridge
• Deafness
• 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 showing that stool doesn't move through the large bowel normally
• Biopsy of the colon showing 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

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

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

• Hearing loss
• Self-esteem problems, or other problems related to cosmetic appearance
• Constipation severe enough to require part of large bowel to be removed
• Slight increased risk for muscle tumor called rhabdomyosarcoma
• Slight decreased intellectual functioning (possible, unusual)

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.

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