Waardenburg Syndrome

Introduction

Waardenburg Syndrome (WS) is a hereditary disorder which can cause deafness, certain degree of albinism or pigmentation problem and some structural problems.  Waardenburg Syndrome is named after the Dutch ophthalmologist Petrus Johannes Waardenburg who first brought theWaardenburg Syndrome into public attention and explained it in details. Swiss ophthalmologist David Klein also made major contribution to Waardenburg Syndrome and hence sometimes Waardenburg Syndrome is also known as Waardenburg Klein Syndrome. Waardenburg Syndrome is broadly classified into four categories viz; Waardenburg Syndrome type I, Waardenburg Syndrome type II, Waardenburg Syndrome type III andWaardenburg Syndrome type IV depending on the symptoms. WS I and WS II are common type ofWaardenburg Syndrome whereas WS III and WS IV are rare. The occurrence of Waardenburg Syndrome is very rare. Waardenburg Syndrome can affect both the male and females.Waardenburg Syndrome is not restricted to a particular race and can affect people belonging to all the races.

Causes of disease

Waardenburg Syndrome is caused by faulty genes. The faulty gene which causes the Waardenburg Syndrome is passed by the parent to child. Most of the cases of Waardenburg Syndrome are caused due to gene inheritance in autosomal dominant pattern, meaning, the child inherits the only one copy of the altered or faulty gene from the parent. Waardenburg Syndrome can also be caused by autosomal recessive pattern, meaning, the child inherits the only two copies of the altered or faulty gene from the parent. A child who has Waardenburg Syndrome inherits the altered gene from one parent only who has the altered Waardenburg Syndrome gene. In rare casesWaardenburg Syndrome affects a child whose parent do not have history of Waardenburg Syndrome. This happens because of mutation in the parent’s gene.

Symptoms and Signs

The symptoms of Waardenburg Syndrome vary depending on the type of Waardenburg Syndrome. The major symptoms noticed in patients suffering from Waardenburg Syndrome are as follows:

  • Either born deaf or having problem in hearing
  • Lock of white hair on the forehead
  • Premature graying of hair
  • Unified eye brow meaning eyebrows touching in the middle.
  • Very pale/sparkling blue eyes or eyes with two different colours or one iris with two different colours.
  • Patches of white skin or other pigmentation problem associated with the skin.
  • Inner corner of the eye displaced to the sides (this abnormality is called dystopia canthorum)
  • Abnormalities with nose has also been seen in some patients suffering from Waardenburg Syndrome
  • Neurological disorder is also found in some patients suffering from Waardenburg Syndrome

Waardenburg Syndrome type III is similar to Waardenburg Syndrome type I, but unlikeWaardenburg Syndrome type I, symptoms like dystopia canthorum does not occur in Waardenburg Syndrome type III. Waardenburg Syndrome type IV is similar to Waardenburg Syndrome type I but have additional symptom of gastrointestinal malformation.

Treatment of disease

The diagnosis of Waardenburg Syndrome is mainly by physical symptoms and typical characteristics like hearing loss. In some of the cases, the symptoms are so mild that theWaardenburg Syndrome disease goes undetected. Formal hearing tests are also used to detect the degree of hearing loss. The treatment depends on the symptoms and the level of hearing loss. Some patients suffering from Waardenburg Syndrome need not undergo any treatment while others might even require surgery. Usually, if it is complete deafness then it is irreversible. In case the extent of hearing loss is not much, the doctors might suggest external hearing aids or surgical operation to improve the hearing power. The others symptoms are treated symptomatically.

Prevention of disease

There are no known prevention measures against Waardenburg Syndrome since it is genetically inherited. Usually pregnant mother can undergo counseling in case both or any of the parents haveWaardenburg Syndrome. Genetic counseling though can not stop passing of the faulty gene to the child but can help the parents assess the risk associated with it.