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Angelman Syndrome
Definition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Synonym(s): Happy Puppet Syndrome / Puppet Children / Children, Puppet / Syndrome, Angelman / Syndrome, Happy Puppet
See also:
Mental Retardation   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Angelman syndrome?
Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include developmental delay or mental retardation, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). Delayed development can be noted by 6 months to 12 months of age, and other common signs and symptoms usually become apparent in early childhood. People with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling and laughter, a short attention span, ...

How common is Angelman syndrome?
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.


More information from the Genetics Home Reference Website
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  Web resources for "Angelman Syndrome"
  English (18)  French (3)  German (1)  Spanish (5)  Portuguese (1)    

= Site with HON description   -   = Site with a robot description
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view the HON description of the site HONcode - Angelman syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - ASNOM - Association Amicale Santé Navale et d'Outre Merwww.asnom.org  
view the HON description of the site HONcode - Angelman Syndrome Foundation, Inc. – Research, Genetic Counseling, Diagnosis, Seizures, Angelmans Syndrome Association - Angelmanwww.angelman.org  
view the HON description of the site HONcode - Angelman syndrome - Genetics Home Referenceghr.nlm.nih.gov 4
view the HON description of the site HONcode - Angelman Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Medical Dictionary: Happy puppet syndrome - CureResearch.comwww.cureresearch.com  
view the HON description of the site HONcode - Angelman syndrome - MayoClinic.comwww.mayoclinic.com  
view the HON description of the site HONcode - BBC - Health: Angelman syndrome www.bbc.co.uk  
view the HON description of the site HONcode - Whonamedit - Angelman's syndromewww.whonamedit.com  
view the HON description of the site HONcode - rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Orphanet: Angelman syndromewww.orpha.net 3
view the HON description of the site HONcode - Angelmannmedgen.genetics.utah.edu  
view the HON description of the site HONcode - Mental retardationwww.healthcentral.com  
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See also: - Mental Retardation

Broader term(s): - Movement Disorders - Central Nervous System Diseases - Nervous System Diseases - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Chromosome Disorders
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  Medical image(s) for "Angelman Syndrome"
click below to enlargeAngelman Syndrome
medgen.genetics.utah.edu
Copyright © Medical Genetics Angelman Syndrome
click below to enlargePossible Controlling area for AS gene
www.multimania.com
Syndrome D'Angelman Possible Controlling area for AS gene
Copyright © Charles Williams, M.D. ; Jill Hendrickson, M.S., M.S.S.W.; Elaine Whidden, M.S.N., A.R.N.P. ; Beth Buehler, M.S.
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  Medical News for "Angelman Syndrome"
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See also: - Mental Retardation
Broader term(s): - Nervous System Diseases - Abnormalities
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  Scientific articles from MEDLINE for "Angelman Syndrome"
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 Therapy:  by recall    by precision
 Diagnosis:  by recall    by precision
 Etiology:  by recall    by precision
 Prognosis:  by recall    by precision

Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Angelman Syndrome"
ClinicalTrials.gov - Linking patients to medical research

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See also: - Mental Retardation
Broader term(s): - Movement Disorders - Central Nervous System Diseases - Nervous System Diseases - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Chromosome Disorders
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  Medical Conferences/Events for "Angelman Syndrome"
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Broader term(s): - Movement Disorders

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Chromosome Disorders 
              Abnormalities
                  Chromosome Disorders 
                  Abnormalities, Multiple 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Movement Disorders 

MeSH 2010 © U.S. National Library of Medicine®.

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