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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hydrocephalus due to congenital stenosis of aqueduct of sylvius. Click on the link to view a sample search on this topic.