Waardenburg syndrome

Waardenburg syndrome is a group of inherited 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 faulty 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 main features: hearing loss and pigment (color) 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 or each a different color.

People with Type I may almost always have wide-set eyes. Hearing loss occurs more often in people with Type II than Type I.

The less common types of this disease may cause problems with the arms or intestines.

Almost 90% of people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.

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

Tests may include:

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

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 people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have additional problems, however, which can lead to complications.

• 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

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.

Morelli JG. Hypopigmented Lesions. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 652.