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: (562)924-6666
Fax: (562)924-6666
Tel: (888)857-3434
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: (415)732-7040
Fax: (415)732-7044
Tel: (888)598-3789
Email: pip@hydroassoc.org
Internet: http://www.hydroassoc.org

National Aphasia Association
7 Dey St.
Suite 600
New York, NY 10007
USA
Tel: (212)267-2814
Fax: (212)267-2812
Tel: (800)922-4622
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.gov

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: 4/25/2008
Copyright 1997, 1998, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 25, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.