Aarskog syndrome is a rare genetic disorder. It causes short stature and specific facial, limb, and genital features.
Aarskog syndrome is an inherited disorder. It is caused by a gene mutation in the faciogenital dysplasia 1 gene (FDG1) on the X chromosome. It is passed from mothers to male children. Female children can be affected by a milder form of the disease.
Those at risk of inheriting Aarskog syndrome are male children of mothers who carry the gene for it.
The main symptoms of Aarskog syndrome are: Short stature
Abnormalities of the head and face, including:
Rounded faceWide-set eyesSlightly slanted eyesDrooping eyelidsSmall noseFront-facing nostrilsUnderdeveloped mid-portion of the faceWide groove above the upper lipCrease below the lower lipFolding of the top portion of the earDelay in growing teeth
In some cases,
cleft lip or palate
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Other symptoms may include: A deformed scrotumUndescended testiclesSmall, wide hands and feetShort fingers and toesMild webbing of fingers and toes, or crease in palm of handMildly sunken chestNavel that sticks outHyperextension of the kneesIntellectual disabilities
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You will be asked about your symptoms and medical history. A
will be done. The diagnosis of Aarskog syndrome is usually based on facial characteristics. It can be confirmed with genetic tests.
of the face and skull can also 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: Inguinal herniaCleft lip or palateUndescended testicles
In some cases, orthodontic treatment may help certain facial and dental abnormalities.
Supportive treatment generally includes educational assistance to address learning difficulties. 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.
Aarskog-Scott syndrome. Ophanet website. Available at: http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=394&Disease_Disease_Search_diseaseGroup=aarskog&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Aarskog-Scott-syndrome&title=Aarskog-Scott-syndrome&search=Disease_Search_Simple. Published October 2012. Accessed June 6, 2016.
Aarskog syndrome. National Organization for Rare Disorders website. Available at:
http://rarediseases.org/rare-diseases/aarskog-syndrome. Published 2012. Accessed June 6, 2016.
Cleft lip and palate. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed. Updated April 7, 2016. Accessed June 6, 2016.
Orrico A, Galli L, Faivre L, Clayton-Smith J, et al. Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene.
Am J Med Genet. Part A 152A(2):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.
Last reviewed June 2016 by Kari Kassir, MD
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