(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome)
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 face
- Wide-set eyes
- Slightly slanted eyes
- Drooping eyelids
- Small nose
- Front-facing nostrils
- Underdeveloped mid-portion of the face
- Wide groove above the upper lip
- Crease below the lower lip
- Folding of the top portion of the ear
- Delay in growing teeth
- In some cases, cleft lip or palate
Other symptoms may include:
- A deformed scrotum
- Undescended testicles
- Small, wide hands and feet
- Short fingers and toes
- Mild webbing of fingers and toes, or crease in palm of hand
- Mildly sunken chest
- Navel that sticks out
- Hyperextension of the knees
- Intellectual disabilities
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 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 hernia
- Cleft lip or palate
- Undescended testicles
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
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. Accessed May 29, 2014.
Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://rarediseases.org/rare-diseases/aarskog-syndrome. Accessed May 29, 2014.
Cleft lip and palate. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated August 17, 2012. Accessed May 29, 2014.
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 June 2015 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.