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Aarskog Syndrome

Definition

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.

Causes

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.

Risk Factors

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.

Symptoms

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
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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
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Diagnosis

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.

Treatment

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:

  • Inguinal hernia
  • Cleft lip or palate
  • Undescended testicles

Prevention

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.

Revision Information

  • Reviewer: Kari Kassir, MD
  • Review Date: 06/2016 -
  • Update Date: 03/20/2017 -
  • 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.