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Aarskog syndrome


Other Names for this Disease
  • Aarskog disease
  • Aarskog Scott syndrome
  • Faciodigitogenital syndrome
  • Faciogenital dysplasia
  • FGDY
More Names
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Overview


Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.[1][2]
Last updated: 9/7/2011

References

  1. Aarskog syndrome. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed 9/7/2011.
  2. Aarskog-Scott syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed 9/7/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Aarskog syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Aarskog syndrome. Click on the link to view a sample search on this topic.