by Rick Alan
Aarskog syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected. Aarskog syndrome is an extremely rare genetic disorder.
Aarskog syndrome is an inherited disorder. It is caused by a gene mutation on the X chromosome. It is passed from mothers to male children. (Female children can be affected by a milder form of the disease.)
A risk factor is something that increases your chance of getting a disease or condition. This disorder mainly affects males.
Those at risk of inheriting Aarskog syndrome are male children of:
The main symptoms of Aarskog syndrome are:
Other symptoms may include:
The doctor will ask about your symptoms and medical history. A physical exam will be done. The diagnosis of Aarskog syndrome is usually based on facial characteristics. It can be confirmed with genetic tests. X-rays of the face and skull can be used to help make a diagnosis.
There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed.
Treatment may include:
Conditions that may be treated with surgery include:
In some cases, orthodontic treatment may help certain facial and dental abnormalities.
Supportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and support.
There is no known way to prevent Aarskog syndrome. If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.
Researchers have located abnormalities in the FGD1 gene in people with this syndrome. Genetic testing for mutations in this gene is available.
International Birth Defects Information Systems
National Organization for Rare Disorders
Canadian Paediatric Society
Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://www.raredis.... Accessed October 26, 2012.
Cleft lip and palate. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated August 17, 2012. Accessed October 26, 2012.
Orrico A, Galli L, Faivre L, Clayton-Smith J,Azzarello-Burri SM, Hertz JM, Jacquemont S, et al. Aarskog–Scott Syndrome: Clinical Update and Report of Nine Novel Mutations of the FGD1 Gene. Am J Med Genet. Part A 152A:313–318.
Pasteris NG, Nagata K, Hall A, Gorski J. Isolation, characterization and mapping of mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue. Gene. 2000;242:237-247.
Last reviewed October 2012 by Kari Kassir, MD
Last Updated: 10/26/2012
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