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Genetic and Rare Diseases Information Center (GARD)

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Hydrocephalus due to congenital stenosis of aqueduct of sylvius


Other Names for this Disease
  • Aqueductal stenosis, X-linked
  • Bickers-Adams syndrome
  • HSAS
  • HSAS1
  • HYCX
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of 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.[1][2]
Last updated: 4/26/2015

References

  1. Stumpel C & Vos YJ. L1 syndrome. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1484/. Accessed 4/24/2015.
  2. L1 syndrome. NORD. August 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract.
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Basic Information

  • 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.

In Depth Information

  • 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.
Other Names for this Disease
  • Aqueductal stenosis, X-linked
  • Bickers-Adams syndrome
  • HSAS
  • HSAS1
  • HYCX
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.