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 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 defects in different genes. Most 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.
Symptoms may include:
Cleft lip (rare)
Deafness (more common in type II disease)
Extremely pale blue eyes or eye colors that don't match (heterochromia)
Pale color skin, hair, and eyes (partial albinism)
Difficulty completely straightening joints
Possible slight decrease in intellectual function
Wide-set eyes (in type I)
White patch of hair or early graying of the hair
Less common types of this disease may cause problems with the arms or intestines.
Slight increased risk for muscle tumor called rhabdomyosarcoma
When to Contact a Medical Professional
Genetic counseling may be helpful if you have a 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.
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.
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.