National Organization for Rare Disorders, Inc.
L1 Syndrome
Important
It is possible that the main title of the report L1 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
- Adducted Thumbs-Mental Retardation
- Congenital Clasped Thumb with Mental Retardation
- Garies-Mason Syndrome
- Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)
- X-linked Mental Retardation-Clasped Thumb Syndrome
Disorder Subdivisions
- None
General Discussion
L1 syndrome is a genetic condition occurring in males that usually includes hydrocephalus, mental retardation, spasticity of legs and clasped (adducted) thumbs. L1 syndrome is caused by an abnormality (mutation) in the L1CAM gene. Different types of mutations result in different disease characteristics, but disease severity is variable, even in affected members of the same family.
Resources
National Hydrocephalus Foundation
12413 Centralia
Lakewood, CA 90715-1623
USA
Tel: 5629246666
Fax: 5629246666
Tel: 8888573434
Email: nhf@earthlink.net
Internet: http://www.nhfonline.org
Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
Tel: (718)743-4473
Fax: (718)743-1171
Tel: (800)458-8655
Email: GHRF2618@aol.com
Hydrocephalus Association
870 Market Street
Suite 705
San Francisco, CA 94102
USA
Tel: 4157327040
Fax: 4157327044
Tel: 8885983789
Email: info@hydroassoc.org
Internet: http://www.hydroassoc.org
National Aphasia Association
7 Dey St.
Suite 600
New York, NY 10007
USA
Tel: 2122672814
Fax: 2122672812
Tel: 8009224622
Email: naa@aphasia.org
Internet: http://www.aphasia.org
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/
NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.govFor 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: 4/25/2008
Copyright 1997, 1998, 2005 National Organization for Rare Disorders, Inc.
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| Synonyms | |
| Disorder Subdivisions | |
| General Discussion | |
| Resources | |
| For a Complete Report | |