National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Angelman Syndrome is not the name you expected.
Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delays and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene.
Angelman syndrome was first described in the medical literature in 1965 by Dr. Harry Angelman, an English physician. The characteristic findings of Angelman syndrome are not usually apparent at birth and diagnosis of the disorder is usually made between 1 and 4 years of age.
Angelman Syndrome Foundation, Inc.
- 75 Executive Drive
- Suite 327
- Aurora, IL 60504
- Tel: (630) 978-4245
- Fax: (630) 978-7408
- Tel: (800)432-6435
- Email: email@example.com
- Website: http://www.angelman.org
Angelman Syndrome Support Education and Research Trust
- PO Box 4962
- Nuneaton, CV11 9FD
- United Kingdom
- Tel: 3009990102
- Email: firstname.lastname@example.org
- Website: http://www.angelmanuk.org
Canadian Angelman Syndrome Society
- P.O. Box 37
- Alberta, T0L 1W0
- Tel: 4039312415
- Fax: 4039312415
- Email: info@AngelmanCanada.org
- Website: http://www.angelmancanada.org
- 8301 Professional Place
- Landover, MD 20785-7223
- Tel: (866)330-2718
- Fax: (877)687-4878
- Tel: (800)332-1000
- Email: ContactUs@efa.org
- Website: http://www.epilepsyfoundation.org
Foundation for Angelman Syndrome Therapeutics (FAST)
- P.O. Box 608
- Downers Grove, IL 60515-0608
- Tel: (630)852-3278
- Fax: (630)852-3270
- Tel: (866)783-0078
- Email: info@CureAngelman.org
- Website: http://www.CureAngelman.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or email@example.com
- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.org
- Website: http://www.thearc.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 4/29/2015
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