Waardenburg syndrome
St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

Waardenburg syndrome

Definition

Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.

Alternative Names

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

Causes

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

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)
  • 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:

Treatment

There is no specific treatment. Symptoms will be treated as appropriate. Special diets and medicines to keep the bowel moving are prescribed to those patients who have constipation.

Outlook (Prognosis)

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 other complications.

Possible 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

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.

References

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.


Review Date: 8/4/2011
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 


Back  |  Top
About Us
Contact Us
History
Mission
Locations & Directions
Quality Reports
Annual Reports
Honors & Awards
Community Health Needs
Assessment

Newsroom
Services
Brain & Spine
Cancer
Heart
Maternity
Orthopedics
Pulmonary
Sleep Medicine
Urgent Care
Women's Services
All Services
Patients & Visitors
Locations & Directions
Find a Physician
Tour St. Luke's
Patient & Visitor Information
Contact Us
Payment Options
Financial Assistance
Send a Card
Mammogram Appointments
Health Tools
My Personal Health
mystlukes
Spirit of Women
Health Information & Tools
Clinical Trials
Health Risk Assessments
Employer Programs -
Passport to Wellness

Classes & Events
Classes & Events
Spirit of Women
Donate & Volunteer
Giving Opportunities
Volunteer
Physicians & Employees
For Physicians
Remote Access
Medical Residency Information
Pharmacy Residency Information
Physician CPOE Training
Careers
Careers
St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile