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.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:   9/14/2005

Copyright   1997, 1998, 2005 National Organization for Rare Disorders, Inc.