Angelman syndrome

Introduction: Angelman syndrome

Prader-Willi syndrome and Angelman syndrome are two rare chromosome disorders, with very different symptoms, but caused by the same area of DNA. They are important to genetic research because they are caused by imprinting.

Symptoms of Angelman syndrome

• Retardation
• Unusually happy demeanor
• Microcephaly (small head)
• Large jaws
• Jerky movements

See full list of 38 symptoms of Angelman syndrome

Less Common Symptoms of Angelman syndrome

• Scoliosis
• Hypopigmentation
• Strabismus
• Myopia
• Hypermetropia

See full list of 6 occasional symptoms of Angelman syndrome

Wrongly Diagnosed with Angelman syndrome?

• Misdiagnosis of Angelman syndrome

Causes of Angelman syndrome

Read more about causes of Angelman syndrome.

More information about causes of Angelman syndrome:

• Medical news summaries relating to Causes of Angelman syndrome

Videos for Angelman syndrome

Patient Surveys for Angelman syndrome

• Patient Profile Survey
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Prognosis for Angelman syndrome

Prognosis for Angelman syndrome: Good survival rate but with mental delay or retardation, and physical problems such as balance and speech abnormalities.

More about prognosis of Angelman syndrome

Reseach about Angelman syndrome

Visit our research pages for current research about Angelman syndrome treatments.

Clinical Trials for Angelman syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Angelman syndrome include:

• Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes - This study has been completed (Current: 23 Nov 2006)
• Characterization of Angelman Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006)
• Dietary Supplements for the Treatment of Angelman Syndrome - This study is currently recruiting patients (Current: 23 Nov 2006) - Betaine,Creatine,Metafolin,Vitamin B12

Read more about Clinical Trials for Angelman syndrome

Statistics for Angelman syndrome

• Medical statistics for Angelman syndrome
• Prevalence and incidence statistics for Angelman syndrome
• Death and Mortality statistics for Angelman syndrome
• Society statistics for Angelman syndrome
• Symptom statistics for Angelman syndrome

Medical Guidebooks and Ebooks for Angelman syndrome

• Icon Health Sourcebook for Angelman syndrome

See all guides and ebooks for Angelman syndrome

Stories from Users Related to Angelman syndrome

• My brother is always happy- except when he isn't- Refers to Walkers Syndrome
• I'm happy I found this forum I have a question

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User Interactive Forums

Read about other experiences, ask a question about Angelman syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
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Article Excerpts about Angelman syndrome

Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. (Source: excerpt from NINDS Angelman Syndrome Information Page: NINDS)

Definitions of Angelman syndrome:

A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, or puppet-- hence the synonym "happy puppet syndrome." Other disorders include a peculiar facial expression, mental retardation, movement disorders, microbrachycephaly, and various neurological disorders. - (Source - Diseases Database)

Angelman syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Angelman syndrome, or a subtype of Angelman syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Angelman syndrome as a "rare disease".
Source - Orphanet