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Waardenburg Syndrome (WS)
Saturday, 26 July 2003
Thursday, 14 July 2005

What

Waardenburg syndrome (WS) is an inherited disorder characterized by hearing loss, and changes in hair and skin coloration. There are four types of WS (I,II,III,IV), with types I and II being the most common.

Who

Waardenburg syndrome occurs in all ethnicities and equally affects both males and females. WS occurs in about 1 in 20,000 to 1 in 40,000 children.

Signs and Symptoms

The hearing loss in Waardenburg syndrome is present from birth (congenital). The hearing loss is typically not progressive, can be in one or both ears, and of the sensorineural (nerve) type. The hearing loss can vary from moderate to severe to profound. The following are additional signs and symptoms that may be seen in WS, noting that the child may not have all of these characteristics. The pigment (color) of the eyes and skin are affected causing two differently colored eyes or white areas of the skin (albinism). The bridge of the nose may be wide and the eyes may appear to be spaced far apart. The hairline may be low on the forehead. Hair may become gray early in life, often before 30 years of age. There may be patches of white hair such as a “white forelock”, which is a white lock of hair growing above the forehead. Type I WS includes the above signs and symptoms. Type II WS also has the above signs but has hearing loss and differently colored eyes more commonly than in type I. On the other hand, the white forelock, early graying of the hair, and albinism occur less commonly than in type I. Type III has the above signs, plus malformations of the upper limbs. Type IV has the above signs, as well as Hirschsprung disease (which is a digestive disorder where certain nerve cells in the large intestine are missing which causes problems passing stool.)

Possible Causes

WS is inherited in an autosomal dominant manner. WS type I and type III are caused by changes (mutations) in a gene called PAX3. This gene is located on chromosome 2. WS type II can by caused by several genes called MITF (located on chromosome 3), SNAI2 (located on chromosome 8), WS2B (located on chromosome 1), or WS2C (located on chromosome 8). WS type IV can be caused by a gene called EDN3 (located on chromosome 20), or EDNRB (located on chromosome 13). Research is ongoing and there are some causes of WS that are still unknown.

Diagnosis

The diagnosis of WS is based on the above signs and symptoms. A hearing test can determine the degree of hearing loss. Diagnosis can be confirmed with genetic testing if available. A biopsy of the colon (surgically taking a small piece of the intestine and looking at it under a microscope) can diagnose Hirschsprung disease (which will show missing nerve cells).

Treatment

There is no cure for WS but it is important to treat the child’s symptoms. For example, hearing aids can help the hearing loss. If the child needs speech therapy or special classes, these services should be made available. If the child has Hirschsprung disease, surgery may be needed, and/or medications and dietary changes that can be recommended by a gastroenterologist.

Prognosis

With proper care and management of the hearing loss and other medical problems, children with WS can lead normal lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Institute of Deafness and other Communication Disorders 
A summary of WS and additional information related to hearing loss.

American Society for Deaf Children
A support group for parents with deaf and hard-of-hearing children.

NOAH: National Organization for Albinism and Hypopigmentation
A support group for parents with children affected by decreased skin pigment. ad normal lives.

Google Search for Waardenburg Syndrome (WS)

References and Sources

Medline Plus http://www.nlm.nih.gov/medlineplus/ency/article/001428.htm A well-written, article on WS. McKusick, V. OMIM: Waardenburg Syndrome Types I, II, III, IV. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193500 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193510 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600193 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606662 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608890 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820 www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277580 Gene Reviews: Waardenburg Syndrome Type 1. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=D9V2z48-yn4Jm&gry=&fcn=y&fw=zxzq&filename=/profiles/ws1/index.html