Aarskog Syndrome

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

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, face, hands, and genitals.

Causes    TOP

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    TOP

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    TOP

Aaskog syndrome results in:

  • 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
    • In some cases, cleft lip or palate

Cleft Lip

Cleft lip
Copyright © Nucleus Medical Media, Inc.

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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Copyright © Nucleus Medical Media, Inc.

Diagnosis    TOP

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    TOP

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    TOP

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.

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

References:

Aarskog-Scott syndrome. Ophanet website. Available at:
...(Click grey area to select URL)
Published October 2012. Accessed July 6, 2018.
Aarskog syndrome. National Organization for Rare Disorders website. Available at:
...(Click grey area to select URL)
Published 2017. Accessed July 6, 2018.
Cleft lip and palate. EBSCO DynaMed Plus website. Available at: http://www.dynamed.... Updated October 4, 2017. Accessed July 6, 2018.
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 2018 by Kari Kassir, MD
Last Updated: 7/6/2018

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