What is Angelman syndrome?
What is Angelman syndrome?
- Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
- 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
Angelman syndrome: Introduction
Types of Angelman syndrome:
Broader types of Angelman syndrome:
How many people get Angelman syndrome?
Prevalance of Angelman syndrome: 1 per 12,000 - 20,000 people are affected by Angelman syndrome, Genetics Home Reference website
Prevalance Rate of Angelman syndrome: approx 1 in 12,000 or 0.01% or 22,666 people in USA [about data]
How serious is Angelman syndrome?
Prognosis of Angelman syndrome: Good survival rate but with mental delay or retardation, and physical problems such as balance and speech abnormalities.
Complications of Angelman syndrome:
see complications of Angelman syndrome
Prognosis of Angelman syndrome:
Most
individuals with Angelman syndrome will have mental delay, severe speech
limitations, and some type of gait abnormality. Patients may have
improvement of symptoms with therapy.
(Source: excerpt from NINDS Angelman Syndrome Information Page: NINDS)
What causes Angelman syndrome?
Causes of Angelman syndrome: see causes of Angelman syndrome
What are the symptoms of Angelman syndrome?
Symptoms of Angelman syndrome:
see symptoms of Angelman syndrome
Complications of Angelman syndrome:
see complications of Angelman syndrome
Can anyone else get Angelman syndrome?
Inheritance:
see inheritance of Angelman syndrome
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Angelman syndrome: Testing
Diagnostic testing: see tests for Angelman syndrome.
Misdiagnosis: see misdiagnosis and Angelman syndrome.
How is it treated?
Treatments for Angelman syndrome:
see treatments for Angelman syndrome
Research for Angelman syndrome:
see research for Angelman syndrome
Organs Affected by Angelman syndrome:
Organs and body systems related to Angelman syndrome include:
Name and Aliases of Angelman syndrome
Main name of condition: Angelman syndrome
Class of Condition for Angelman syndrome: genetic chromosomal
Other names or spellings for Angelman syndrome:
Happy puppet syndrome, AS, Happy puppet syndrome (formerly)
Happy puppet syndrome
Source - Diseases Database
AS, HPS(Happy puppet syndrome), Happy puppet syndrome, Puppet children, Puppetlike syndrome, Puppet children, Puppetlike syndrome, AS, HPS(Happy puppet syndrome)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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