Aarskog syndrome is a disorder of the genes. It causes a problem in how certain areas of the body develop. Most common features that are affected include height, face, hand, and genitals.
Genes are the plans for how your tissue develops and acts. In Aarskog syndrome, a specific gene has a defect that causes certain areas to develop differently. This genetic change is inherited from the parent. Women can have the gene and have no symptoms, this is called a carrier.
A mother with the genetic defect have a 25% chance of having a son with Aarskog syndrome. Fathers cannot pass their gene to their sons but may pass the gene to their daughter, which makes them a carrier.
The main symptoms of Aarskog syndrome are:
Other symptoms may include:
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 also be used to help make a diagnosis.
There is no known cure for Aarskog syndrome. Treatment is focused on managing symptoms that may be causing problems. Specialist may be needed to help treat eye, ear, or dental problems. An orthodontist may be able to help certain facial and dental abnormalities.
Surgery may be needed for:
International Birth Defects Information Systems
National Organization for Rare Disorders
Caring for Kids—Canadian Paediatric Society
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Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://rarediseases.org/rare-diseases/aarskog-syndrome. Published 2012. Accessed June 6, 2016.
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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(1-2):237-247.
Last reviewed June 2016 by Kari Kassir, MD
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