Angelman Syndrome

Important
It is possible that the main title of the report Angelman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

AS
Happy Puppet Syndrome (obsolete)

Disorder Subdivisions

None

General Discussion

Angelman Syndrome is a rare disorder characterized by developmental delay; absence or near absence of speech; unprovoked, prolonged episodes (paroxysms) of inappropriate laughter; characteristic facial abnormalities; and episodes of uncontrolled electrical activity in the brain (seizures). Abnormalities of the head and facial (craniofacial) area may include a small head (microcephaly); deeply set eyes; a large, wide mouth (macrostomia) and a protruding tongue; an underdeveloped upper jaw (maxillary hypoplasia) and protruding lower jaw (mandibular prognathism); and widely spaced teeth. During infancy, feeding difficulties and abnormal sleep patterns are typically present. In addition, by early childhood, individuals with Angelman Syndrome have severe developmental delays; impaired control of voluntary movements (ataxia), resulting in a stiff manner of walking (ataxic gait) with jerky arm movements; and characteristic positioning of the arms with flexion of the elbows and wrists. Although affected individuals may be unable to speak, many gradually learn to communicate through other means, such as sign language. In addition, some may have enough receptive language development to understand simple commands.

In most affected individuals, Angelman Syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported. The disorder is caused by deletion or disruption of a certain gene or genes located on the long arm (q) of chromosome 15 (15q11-q13).
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Resources

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Angelman Syndrome Foundation, Inc.
3015 E. New York Street 3015 E. New York Street
Suite A2265
Aurora, IL 60504
USA
Tel: 6309784245
Fax: 6309787408
Tel: 8004326435
Email: info@angelman.org
Internet: http://www.angelman.org

Angelman Syndrome Support and Education Research Trust
FREEPOST ASSERT EH21 6ZX
Sittingbourne
Kent, Intl ME10 1NE
United Kingdom
Tel: 011-44-1980-652-617

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Canadian Angelman Syndrome Society
P.O. Box 37
Priddis
Alberta, Intl T0L 1W0
Canada
Tel: 4039312415
Fax: 4039312415
Email: cass01@telus.net
Internet: http://www.angelmancanada.org

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
USA
Tel: 4142990124
Fax: 4143471977
Email: horizons@new-horizons.org
Internet: http://www.new-horizons.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 8/7/2007
Copyright 1987, 1990, 1994, 1995, 1998, 1999, 2000, 2002, 2007 National Organization for Rare Disorders, Inc.

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