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 spectrum
- L1 disease
- MASA syndrome
- SPG1 (X-linked complicated hereditary spastic paraplegia type 1)
- X-linked corpus callosum agenesis
- X-linked hydrocephalus with stenosis of the aqueduct of sylvius
- HSAS, aqueductal stenosis, X-linked
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.
National Hydrocephalus Foundation
12413 Centralia Rd.
Lakewood, CA 90715-1653
4340 East West Highway Ste 950
Bethesda, MD 20814
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
Bethesda, MD 20892-3456
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126