What is weinberger syndrome

Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth congenital. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye.

Sometimes one eye has segments of two different colors. Distinctive hair coloring such as a patch of white hair or hair that prematurely turns gray is another common sign of the condition.

The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause.

Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I.

Type III sometimes called Klein-Waardenburg syndrome includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV also known as Waardenburg-Shah syndrome has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease , an intestinal disorder that causes severe constipation or blockage of the intestine.

Waardenburg syndrome affects an estimated 1 in 40, people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing.

In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine.

Mutations in one of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease. Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene ; these cases occur in people with no history of the disorder in their family.

Some cases of Waardenburg syndrome type II and type IV appear to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations.

Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Genetics Home Reference has merged with MedlinePlus. Learn more. Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent has to pass on the faulty gene for a child to be affected.

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.

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 closely. 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. Genetic counseling may be helpful if you have a family history of Waardenburg syndrome and plan to have children. Call your health care provider for a hearing test if you or your child has deafness or decreased hearing. Neurocutaneous disease. Dermatological Signs of Systemic Disease. Philadelphia, PA: Elsevier; chap Kliegman RM, St.

Defects in metabolism of amino acids. In: Kliegman RM, St. Nelson Textbook of Pediatrics. Milunsky JM.