National Organization for Rare Disorders, Inc.
It is possible that the main title of the report L1 Syndrome is not the name you expected.
L1 syndrome is an inherited, X-linked disorder occurring in males that primarily affects the nervous system. The disease is mainly characterized by hydrocephalus (increased fluid in the center of the brain), spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum (underdeveloped or absent connecting tissue between the left and right hemispheres of the brain). Affected individuals have intellectual disability in the mild to moderate range. L1 syndrome is caused by abnormalities (mutations) in the L1CAM gene, which affects about 1 in 30,000 males.
The acronym CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus) syndrome was originally proposed in 1995 by Dr. Erik Fransen to describe L1 syndrome but is no longer used.
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/
- 4340 East West Highway Ste 950
- Bethesda, MD 20814
- Tel: (301)202-3811
- Fax: (301)202-3813
- Tel: (888)598-3789
- Email: firstname.lastname@example.org
- Website: http://www.hydroassoc.org
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/
NIH/National Institute on Deafness and Other Communication Disorders
- 31 Center Drive, MSC 2320
- Communication Avenue
- Bethesda, MD 20892-3456
- Tel: (301)402-0900
- Fax: (301)907-8830
- Tel: (800)241-1044
- Email: email@example.com
- Website: http://www.nidcd.nih.gov
National Aphasia Association
- 350 Seventh Avenue
- Suite 902
- New York, NY 10007
- Tel: (212)267-2814
- Fax: (212)267-2812
- Tel: (800)922-4622
- Email: firstname.lastname@example.org
- Website: http://www.aphasia.org
National Hydrocephalus Foundation
- 12413 Centralia Rd.
- Lakewood, CA 90715-1653
- Tel: (562)924-6666
- Fax: (562)924-6666
- Tel: (888)857-3434
- Email: email@example.com
- Website: http://www.nhfonline.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: 5/21/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
PeaceHealth endeavors to provide comprehensive health care information, however some topics in this database describe services and procedures not offered by our providers or within our facilities because they do not comply with, nor are they condoned by, the ethics policies of our organization.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.