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.
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.
National Hydrocephalus Foundation
12413 Centralia Rd.
Lakewood, CA 90715-1653
Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
870 Market Street
San Francisco, CA 94102
National Aphasia Association
350 Seventh Avenue
New York, NY 10007
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Communication Avenue. Bethesda, MD 20892-3456
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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 firstname.lastname@example.org
Last Updated: 4/25/2008
Copyright 1997, 1998, 2005 National Organization for Rare Disorders, Inc.