(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome)
by Cynthia M. Johnson, MA
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.
Problems may be:
It may also result in:
The doctor will ask about your symptoms and health history. 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 are no known guidelines to prevent this health problem.
International Birth Defects Information Systems
National Organization for Rare Disorders
Caring for Kids—Canadian Paediatric Society
Aarskog syndrome. National Organization for Rare Disorders website. Available at:
...(Click grey area to select URL)
Accessed November 2, 2020.
Cleft lip and palate. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/cleft-lip-and-palate. Accessed November 2, 2020.
Dixon MJ, Marazita ML, et al. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011 Mar;12(3):167-178.
Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD
Last Updated: 11/2/2020
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