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Aarskog Syndrome

(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome)

by Cynthia M. Johnson, MA

Definition

Aarskog syndrome is a disorder of the genes. It causes a problem in how certain parts of the body grow. It can affect height, the face, hands, and genitals.

Causes

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.

Risk Factors

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.

Symptoms

Problems may be:

  • Short stature
  • Problems of the head and face, such as:
    • Rounded face
    • Wide-set eyes
    • Slightly slanted eyes
    • Drooping eyelids
    • Small nose
    • Front-facing nostrils
    • Underdeveloped middle part of the face
    • Wide groove above the upper lip
    • Crease below the lower lip
    • Folding of the top part of the ear
    • Delay in growing teeth
    • Cleft lip or palate

Cleft Lip

Cleft lip
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It may also result in:

  • 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
  • Learning problems

Undescended Testicle

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Diagnosis

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.

Treatment

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:

  • Inguinal hernia
  • Cleft lip or palate
  • Undescended testicles

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

International Birth Defects Information Systems
http://www.ibis-birthdefects.org
National Organization for Rare Disorders
http://rarediseases.org

CANADIAN RESOURCES:

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

References:

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: 5/5/2021