© 2004 Rano Sangwan
William’s Syndrome
•
A rare genetic condition that occurs in
approximately 1 in 20,000 births.
•
Heart problems, learning difficulties, hearing
and vision defects and low IQ’s.
•
A genetic mystery that creates unique
personality traits.
William’s Syndrome
What is the cause of William’s syndrome (WS)?
• Micro deletion of chromosome 7
• Missing genetic material is Elastin
• Elastin – a protein important for elasticity of the skin,
blood vessels and joints
William’s Syndrome
What are the symptoms of WS?
Parents with a newly born WS child observe:
• Feeding problems
• Vomiting and constipation
• Irritability
WS children are delayed in their development
William’s Syndrome
Other Symptoms:
• Small upturned nose
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•
•
•
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Full prominent cheeks
A wide mouth
A long philtrum
Puffiness around the eyes
Small irregular teeth
Patricia
Trey
Distinctive body structure:
• Long neck and sloping shoulders
• Joint stiffness
• Low height
Miriam
Eric
William’s Syndrome
What are the treatment options?
• Health and educational professionals should be involved
in the care of a WS child.
• Regular checkups for potential medical problems
• The expertise of developmental psychologists, physical
and occupational therapists
• Language and speech therapists
William’s Syndrome
What are the chances of having another WS child?
• The chances are minimal
WS has an autosomal dominant inheritance pattern,
which means there is a 50% chance that a person with
WS passes the disorder on to each of his or her children.
Normal male
Child with WS
Female with WS
Normal child
William’s Syndrome
Financial and emotional consequences
• The medical costs should be covered under existing
medical insurance or Medicare
• Social service departments organise respite care for
WS children for a few days or weeks
• A Local Education Authority helps parents to find
special educational support
• A transition plan - help with the transition to adult life
and continuing education
William’s Syndrome
What is the prognosis for individuals with WS?
The majority of individuals with WS are healthy and
lead active, full lives.
William’s Syndrome
William’s Syndrome
What WS support groups are available in
Australia?
•
Williams Syndrome Support Group of Victoria
Secretary Janine Wan
43 Naroo Street
Balwyn Vic 3103
Tel: (03) 9859 4450
email jwan@enternet.com.au
Web page http://home.vicnet.net.au/~wsfsg/
•
Williams Syndrome Association of South Australia, Inc.
102 Amsterdam Crescent, Salisbury Downs
Adelaide 5108 Australia
Tel: 8258 3867
e-mail: amarob@chariot.net.au
•
Williams Syndrome (IHC) Association of New South Wales
32 Selwyn Street, Paddington
New South Wales 2021 Australia
Tel: 02 9332 1361
William’s Syndrome
References
Hagerman, R.J. (1999). Neurodevelopmental disorders: diagnosis and treatment.
New York: Oxford University Press.
Howlin, P., & Udwin, O. (2002). Outcomes in neurodevelopmental and genetic
disorders. Cambridge: Cambridge University Press.
Mahajan, B.S., & Rajadhyaksha, M.S. (1999). New biology and genetic diseases.
New Delhi: Oxford University Press.
http://www.williams-syndrome.org/forparents/faq.html
http://www.williams-syndrome.org.uk/about_ws/guidelines/parents.htm#forward
http://home.vicnet.net.au/~wsfsg/
http://www.wsf.org/family/news/lenhoff_sa.pdf
William’s Syndrome
Questions?
William’s Syndrome
Thank You!
Rano Sangwan