Aarskog syndrome is a disorder of the genes. It causes a problem in how certain parts of the body grow. It can affect height, face, hands, and genitals.
Aarskog syndrome is caused by a faulty gene that causes certain parts of the body to grow the wrong way. This change is inherited from the parent. Women can carry the gene and have no symptoms.
A mother with the faulty gene has 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.
Aaskog syndrome results in:
It may also result in:
A physical exam will be done. The diagnosis of Aarskog syndrome is usually based on facial features. 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. Treatment is focused on easing symptoms that cause problems. Specialists may be needed to help treat eye, ear, or dental problems. An orthodontist may be able to help certain facial and dental problems.
Surgery may be needed for:
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.
International Birth Defects Information Systems
National Organization for Rare Disorders
Caring for Kids—Canadian Paediatric Society
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 July 6, 2018.
Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://rarediseases.org/rare-diseases/aarskog-syndrome. Published 2017. Accessed July 6, 2018.
Cleft lip and palate. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T115764/Cleft-lip-and-palate. Updated October 4, 2017. Accessed July 6, 2018.
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. Gene. 2000;242(1-2):237-247.
Last reviewed May 2018 by Kari Kassir, MD Last Updated: 7/6/2018