Rare Genetic Diseases Waardenburg Syndrome

Waardenburg syndrome is a genetic disease that causes deafness, pale skin, eye color, and hair. The syndrome requires only one faulty gene, usually PAX3 or MITF. Genes EDNRB and EDN3 cause the less common Klein-Waardenburg, Waardenburg-Shah types. PAX3 controls facial and inner ear development. MITF gene controls hearing and ear growth.

Whenever problems with genes or cells arise or if you have a history of the syndrome in your family, genetic counseling is a good suggestion. Make sure you have a healthy baby, learn the facts.  A percentage of one in thirty students, in the schools for the deaf, has this syndrome. The chance of parent passing the defective gene on to their children is fifty percent.

Four types of the syndrome exist: Type I, Type II, Klein-Waardenburg, Waardenburg-Shah. The first two types of they syndrome are most common. Waardenburg-Shah also corresponds to Hirschsprung disease wherein the nerve endings are absent from the intestine and causes blockage of the bowel. Again this is a very rare disease.

Most of the symptoms of the syndrome include moderate to profound deafness, mismatched eye colors, usually one blue and one brown; pale skin and eyes, constipation, joint problems, decrease in intellectual functioning, wide-set eyes, and white patch or graying of the hair, and possible problems with the arms or intestines. Grayness can appear as early as age twelve. When patients have their hearing problems corrected then patients can live normally. Not all the symptoms are present in all the types. The main symptom is deafness. People with type I have eyes set farther apart than normal.

Doctors assess the syndrome with a number of tests: genetic testing, colon biopsy, audiometry which tests hearing, and a test for the colon.

Some problems may arise: severe constipation requiring surgery, hearing loss, psychological problems, decrease in IQ, and risk of muscle tumor.

A Dutch ophthalmologist, Petrus Johannes Waardenburg discovered this syndrome in 1947, when presented with a patient with hearing loss, displacement of the inner eyes and eye color differences. He noticed that people with different eye colors usually were deaf. At studying 1000 people, he made his discovery.

 In 1951, he identified today’s type I symptoms. David Klein also made discoveries for which Waardenburg-Klein receives credit. They discovered type II in 1971.

Waardenburg syndrome also affects animals. About 75% of ferrets with the disease have a white stripe on their head or a solid white head.