Waardenburg syndrome
Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color.
Deafness
Hearing loss is being partly or totally unable to hear sound in one or both ears.
Causes
Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to pass on the altered gene for a child to have this condition.
Autosomal dominant
Autosomal dominant is one of many ways that a genetic trait or disorder can be passed down through families. In an autosomal dominant disease, if you...
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 less common.
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
Symptoms may include:
- Cleft lip (rare)
- Constipation
- Deafness (more common in type II disease)
- Extremely pale blue eyes or eye colors that don't match (heterochromia)
Heterochromia
Heterochromia is different colored eyes in the same person.
ImageRead Article Now Book Mark Article - 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.
Exams and Tests
Tests may include:
- Audiometry
Audiometry
An audiometry exam tests your ability to hear sounds. Sounds vary, based on their loudness (intensity) and the speed of sound wave vibrations (tone)...
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Bowel transit time
Bowel transit time refers to how long it takes for food to move from the mouth to the end of the intestine (anus). This article talks about the medic...
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- Genetic testing
Treatment
There is no specific treatment. Symptoms will be treated as needed. Special diets and medicines to keep the bowel moving are prescribed to those people who have constipation. Hearing should be checked carefully.
Outlook (Prognosis)
Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.
Possible Complications
Complications may include:
- 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)
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. Contact your health care provider for a hearing test if you or your child has deafness or decreased hearing.
Reviewed By
Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Cipriano SD, Zone JJ. Neurocutaneous disease. In: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Dermatological Signs of Systemic Disease. 5th ed. Philadelphia, PA: Elsevier; 2017:chap 40.
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 103.
National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Waardenburg syndrome. rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome. Updated February 2023. Accessed September 22, 2023.
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