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
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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 Strength
3280 Peachtree Rd.
Suite 600
Atlanta, 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_synd
rome_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/Waardenburgsyndrome>.