Waardenburg Syndrome

Waardenburg Syndrome is a genetic disorder that is characterized by deafness in the affected individuals and the presence of pale hair, skin and eye color. It generally tends to run in families and may be passed on from one generation to another.

Waardenburg Syndrome is thought to account for nearly 2 to 3 percent of congenital deafness cases. The condition can affect both men and women as well individuals belonging to different ethnicities. Waardenburg Syndrome is known to occur in approximately 1 in every 42,000 people.

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Types of Waardenburg Syndrome

Waardenburg Syndrome is classified into four different types as per the diagnostic criteria. The diagnostic criteria for Waardenburg Syndrome are listed below.

People are said to be affected by “Waardenburg Syndrome type 1” if they elicit any two or one of the major criteria in addition to two minor criteria.

The Major criteria include:

  • The eyes have a striking sapphire blue color or the eyes have two different colors
  • The individuals are born deaf or have congenital hearing problems. Nearly 58 percent of the affected individuals experience this symptom
  • Presence of a white tuft of hair on one’s forehead
  • The inside corner of the eye is relocated to the side
  • A member of the immediate family is affected by Waardenburg Syndrome

The Minor criteria include:

  • Presence of eyebrows that grow towards the center of the face
  • There may be patches of white or light skin
  • The hair may grey prematurely, usually by the age of 30 years
  • Presence of abnormalities of the nose

Individuals who have all the characteristics of Waardenburg Syndrome type 1, but the displacement of the eyes are said to be affected by Waardenburg Syndrome type 2. Hearing loss affects nearly 77 percent of the people affected by Waardenburg Syndrome type 2.

Waardenburg Syndrome type 3 also has all the features of type 1, in addition to the presence of muscle contractures. It is also known as Klein-Waardenburg syndrome

Waardenburg Syndrome type 4 has similar features to that of type 1, but in addition to the presence of a gastrointestinal malformation known as Hirschsprung’s disease. It is also called Waardenburg-Shah syndrome

Symptoms of Waardenburg Syndrome

The symptoms of Waardenburg Syndrome tend to differ from one affected individual to another. Some of the signs and symptoms of the disorder are listed below:

  • The nasal root is broad and prominent which gives a wider than normal appearance to the wide-set eyes
  • Distinctive coloring of the eyes, wherein the eye color may be a brilliant blue or pale; or the presence of two different colors in the iris of one eye, or the eyes may have two different colors
  • The hairline is low and the eyebrows extend in such a way that they touch in the center.
  • Lock of white hair may be present at the front. The hair may grey at an early age.
  • There profound or moderate loss of hearing ability
  • Waardenburg Syndrome type 4 may come with neurologic expressions or manifestations
  • A few individuals affected by Waardenburg Syndrome may elicit patches of white skin pigmentation.
  • In rare cases, irregularities of the arms may be present.
  • Cleft palate is also found in rare cases of Waardenburg Syndrome
  • There may be a minimal decrease in intellectual functioning
  • Some individuals with Waardenburg Syndrome may experience severe constipation complications, which may require a surgical removal of a part of the large bowel
  • Some affected people may experience difficulties in completely straightening the joints.
  • Individuals who have severe physical deformities associated with the condition may experience emotional, psychological, social relationships problems.

Causes

Waardenburg Syndrome has an autosomal dominant pattern of inheritance which indicates that a single copy of the altered gene is enough to cause the condition.

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In most instances, one of the parents of the affected individual may have Waardenburg Syndrome. Only a small number of Waardenburg Syndrome cases are caused due to new mutations in the gene, wherein the affected individual has no family history of the condition

A few cases of type 4 and type 2 Waardenburg Syndrome seem to have an autosomal recessive pattern of inheritance, which indicates that two copies of the gene have to become mutated in order for the disorder to develop. The parents of the individual, who has inherited Waardenburg Syndrome via the autosomal recessive pattern, generally do not have the condition; but each parent is a carrier of one copy of the altered gene.

Treatment of Waardenburg Syndrome

There are specific ways to treat Waardenburg Syndrome. The condition is treated as per the symptoms.

  • Surgery may be required to correct various abnormalities such as eye defects, physical disabilities, etc.
  • Individuals affected by severe constipation may be prescribed medications and change in the diet to regulate the bowel movements
  • Individuals who are affected by Waardenburg Syndrome are advised to get genetic counseling, before opting for pregnancy. This can help the parents to access the situation and understand the probability of the condition passing onto the child.

Waardenburg Syndrome pictures

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