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What Is a Waardenburg Syndrome?

Medically Reviewed by Mahammad Juber, MD on September 21, 2022

Waardenburg syndrome is a rare condition that causes unusual bone structure in the face and a lack of pigment in the hair, skin, and eyes. It can also cause hearing loss and problems with digestion. Waardenburg syndrome is genetic and can be passed down from parent to child. It’s not uncommon for more than one family member to have this condition. 

Waardenburg Syndrome Basics

Waardenburg syndrome is a rare genetic disorder that causes facial differences, diminished pigmentation of the skin, hair, and eyes, and sometimes congenital deafness. Some people with this condition have limb defects, and others may have issues with their digestive tract.

This condition is uncommon, with only 50,000 confirmed cases in the United States at this time. The condition develops before birth, but symptoms aren’t apparent during routine prenatal exams. Most people are diagnosed with Waardenburg syndrome during their first two years of life.

Waardenburg Syndrome Symptoms

The symptoms of this condition vary, and certain symptoms appear in several combinations depending on which of the different Waardenburg syndrome types you have. Experts have identified four variations of the condition.

Unusual pigmentation of skin, eyes, and hair are common characteristics of all types of Waardenburg syndrome. Individuals may have a streak of white hair at the front of the hairline, called a white forelock. Premature hair graying is also common among people with Waardenburg syndrome, sometimes beginning in childhood. Those affected may have unusually light eyes or eyes that are two different colors. Unusually pale skin or patches of lighter skin are also associated with this condition. 

In cases of Waardenburg Syndrome Type I, people exhibit atypical bone structure around their eyes and nose, including widely spaced eyes and unusual broadness of the bridge of the nose. They may also have unusually low openings of their tear ducts.

Waardenburg syndrome, particularly Type II, can cause anomalies in the structure of the inner ear that causes deafness. People are born with abnormalities of or the complete absence of the Organ of Corti in the ear. These structures are necessary for converting vibrations into neurological signals that the brain recognizes as sound. Without the Organ of Corti, the affected person will be unable to hear. 

Waardenburg Syndrome Type III is associated with limb differences in the hands and arms. Individuals may have abnormally short upper limbs, abnormal bending of the finger joints, fusion of the wrist bones, or webbing/fusion of some fingers. Some people also experience atypical positioning of the shoulder blades.

Waardenburg Syndrome Type IV is sometimes called Waardenburg-Hirschsprung disease. The common traits of Waardenburg syndrome are present, as well as another condition called Hirschsprung disease. Hirschsprung disease is a digestive system disorder that limits the ability of the GI tracts to push food through the intestines. That can result in difficulties with digestion and excretion of food. 

Waardenburg Syndrome Causes

Waardenburg syndrome is a genetic condition. It happens due to mutations affecting a combination of six genes. Parents who have the genetic traits for Waardenburg syndrome can pass the traits along to their children. 

Waardenburg syndrome Type I and Type II are inherited as autosomal dominant traits. If one parent carries the trait, any child they have has a 50% chance of having the condition. 

Types III and IV are believed to be autosomal-recessive, which means both parents must have the trait in order to pass it on to children. Two people with the trait have a 25% chance of parenting offspring who have the condition. 

Multiple people in a family may have Waardenburg syndrome. However, family members may not have identical symptoms. There is variation in severity even among close family members such as parents and children. 

Waardenburg Syndrome Treatment

The underlying cause of Waardenburg syndrome cannot be cured. Genetic conditions are lifelong because the traits that cause them exist in every cell of the body. There is no way to change the genetic code to reverse the mutations. 

Treatment for Waardenburg syndrome depends on the individual and what symptoms they have. For some individuals, the symptoms are largely cosmetic and don’t require significant treatment. The lack of pigmentation in the skin, hair, and eyes may result in susceptibility to sunburn and increase the risk of skin cancer, but appropriate sun protection can minimize the risks of sun damage. 

Some people with Waardenburg syndrome require glasses or contacts due to the structure of their eyes. Corrective lenses help with their vision issues. Lenses to protect against sensitivity to bright light may also be appropriate.

Deafness is a complex condition with a variety of options. Cochlear implants can be beneficial to hearing, though speech therapy may be appropriate to assist with learning to speak after cochlear implant surgery. Some people prefer to adapt to deafness and use sign language, lip reading, or assistive devices for communication.  

People with limb differences may benefit from physical and occupational therapy to improve strength and dexterity. In some cases, doctors may recommend surgery to correct certain limb differences. 

Individuals who also have Hirschsprung disease may need surgery to remove portions of the intestines that don’t work properly. Doctors may suggest diet and medication to help manage digestive symptoms and ensure proper nutrition.

Waardenburg Syndrome Prognosis

Most people with Waardenburg syndrome can lead a typical life. The differences in facial presentation and coloring are not typically disabling. There are not usually cognitive deficits associated with this condition. Deafness and digestive system issues can be managed with accommodative and medical assistance. 

If you or your child has Waardenburg syndrome, though, talk to your doctor about any questions you may have. They can help you understand the condition and what, if any, treatment you or your child will need. 

Show Sources

SOURCES: 

Genetic and Rare Diseases Information Center: “Waardenburg syndrome.”

National Organization for Rare Diseases: “Waardenburg Syndrome.”

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