• Aarskog Syndrome

    (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.

    Risk Factors

    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
    Cleft Lip
    Cleft lip
    Copyright © Nucleus Medical Media, Inc.
    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
    Undescended Testicle
    si55551452 96472 1
    Copyright © Nucleus Medical Media, Inc.


    You will be asked 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


    In some cases, orthodontic treatment may help certain facial and dental abnormalities.

    Supportive Treatment

    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.


    International Birth Defects Information Systems http://www.ibis-birthdefects.org

    National Organization for Rare Disorders http://rarediseases.org


    Caring for Kids—Canadian Paediatric Society http://www.caringforkids.cps.ca

    Health Canada http://www.hc-sc.gc.ca


    Aarskog-Scott syndrome. Ophanet website. Available at: http://www.orpha.net/consor/cgi-bin/Disease%5FSearch.php?lng=EN&data%5Fid=394&Disease%5FDisease%5FSearch%5FdiseaseGroup=aarskog&Disease%5FDisease%5FSearch%5FdiseaseType=Pat&Disease%28s%29/group%20of%20diseases=Aarskog-Scott-syndrome&title=Aarskog-Scott-syndrome&search=Disease%5FSearch%5FSimple. 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 Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T115764/Cleft-lip-and-palate. Updated July 7, 2016. Accessed September 23, 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. Gene. 2000;242(1-2):237-247.

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