Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Other Names for this Disease
- Hydrocephalus, X-linked
- Aqueductal stenosis, X-linked
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L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of
Last updated: 4/26/2015
- Stumpel C & Vos YJ. L1 syndrome. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1484/. Accessed 4/24/2015.
- L1 syndrome. NORD. August 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract.
- Genetics Home Reference (GHR) contains information on Hydrocephalus due to congenital stenosis of aqueduct of sylvius. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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