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Aarskog syndrome
Other Names for this Disease
- Aarskog disease
- Aarskog Scott syndrome
- Faciodigitogenital syndrome
- Faciogenital dysplasia
- FGDY
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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]
References
- Aarskog syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed September 7, 2011.
- Aarskog-Scott syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed September 7, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Aarskog syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aarskog syndrome. Click on the link to go to OMIM and review these resources.