Waardenburg Syndrome

Jasmine Cherry

What is it?

• Waardenburg syndrome is a group of changes within genes that can cause hearing loss and a change in hair, skin, and eye color.

• It comes in several type, all of which can be recognized by physical appearance or genetic cause.

Types of Waardenburg Syndrome• Type 1: Afflicted person may have

eyes that are further apart than those without the syndrome; features are similar to Type 2.

• Type 2: Afflicted person does not have eyes that are spaced, but hearing loss is more common in Type 2 than in Type 1.

• Type 3: (Klein-Waardenburg syndrome) Symptoms are the same as Types 1 & 2, plus defects of the upper limbs

• Type 4: (Waardenburg-Shah syndrome) Difficulties in the intestines that cause constipation and blocking the intestines.

• Waardenburg syndrome IID: Characterized by partial albinism and greater hearing problems than those seen in Type 1.

• Type 2D: Separated from Type 2 by the origin of genetic affect (Chromosome 8q11).

Symptoms• Cleft lip• Constipation• Deafness• Abnormally bright blue eyes• Eye colors that don’t match• Difficulties with straightening the

joints• Possible decrease in intellectual

function• White patch of hair or early graying of

the hair• White patches of skin• Eyebrows may connect• Disorders of the spine• Elevation of shoulder blade

How Common is It?

• 1 in 10,000-20,000 people are affected• 2-3% of students in schools for the deaf have

it• Types 1 and 2 are the most common while

Types 2 and 3 are rare• Both sexes are affected equally

Inheritance Pattern• Waardenburg syndrome is autosomal

dominant. • It only affects the first 22

chromosome pairs and only one parent has to carry the gene in order to pass it on to their children. (It is also rarely autosomal recessive)

• It may also be caused by a mutation in the genes that create melanocytes. These are the cells that create the melanin pigment that aids hair, skin, and eye color and contributes to the function of the inner ear.

• Type 4 occurs when there is a mutation in the genes that aid the development of nerve cells in the intestines.

Pedigree

Don’t Panic…

• Does not affect life expectancy / cause death• There is currently not affective treatment or cure for

Waardenburg syndrome.• Tests include: Audiometry, bowel transit time, colon biopsy,

and genetic testing.• Most people with the syndrome go on to live normal lives.• Support Groups

Daily Strength3280 Peachtree Rd.Suite 600Atlanta, GA 3035

Interesting Facts

• Can also be found in animals, especially ferrets.

• Named after Dutch ophthalmologist Petrus Johannes Waardenburg in 1951.

For More Info

• “Death from Waardenburg syndrome”. 26 January 2011. <http://www.wrongdiagnosis.com/w/waardenburg_syndrome_type_iid/intro.html>.

• “Does Waardenburg syndrome shorten life”. 26 January 2011. <http://www.brown.edu/courses/B10032/neurest/waar.htm>.

• “Support groups for Waardenburg syndrome”. 26 January 2011. <http://www.dailystrength.org/content/view/195> .

• “Symptoms of Waardenburg syndrome”. 23 January 2011. <http://health.nyctimes.com/health/guides/disease/waa rdenburg-syndrome/overview.html>.

• “Waardenburg syndrome”. 23 January 2011. <http://ghr.nlm.nih.gov/condition/waardenburg-syndrome>.

• “Waardenburg syndrome animals”. 26 January 2011. <http;//www.reference.com/browse/Waardenburg-syndrome>.