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

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

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

There are four main types of Waardenburg syndrome.

The most common types are Type I and Type II.

Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.

The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and pigment (coloring) changes in the skin, hair, and eyes. A white patch of hair may appear in an otherwise dark head of hair. Eyes may be very pale light-blue eyes or different colored. Persons with Type I may almost always have wide separation of the inner corners of the eyes. Hearing loss occurs more often in persons with Type II than Type I.

The more rare types of this disease may cause problems with the arms or intestines.

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.

• Extremely pale blue eyes or eye colors that don't match (heterochromia)
• White patch of hair or early graying of the hair
• Deafness
• Possible slight decrease in intellectual functioning
• Occasional cleft lip
• Constipation
• Possible difficulty with completely straightening joints (contracture)

Tests may include:

• Audiometry
• Genetic testing
• Bowel transit time
• Colon biopsy

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. Special diets and medicines to keep the bowel moving are prescribed to type IV patients who have constipation.

Once hearing problems are corrected, most persons with this syndrome should be able to lead a normal life. However, those with rarer forms of the syndrome may have additional problems, which can affect their prognosis.

• 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.