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Aarskog Syndrome

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Aarskog Syndrome

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

Definition

Aarskog syndrome is a genetic disorder that results in problems with growth. It can affect height, the face, hands, and genitals.

Causes

Aarskog syndrome is caused by a faulty gene that is inherited from the parent.

Risk Factors

The risk of this problem is higher in people who have a parent with the faulty gene.

Symptoms

A person with this problem will have short stature. They will also have 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.

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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
  • Knees that extend more than they should
  • Learning problems
Undescended Testicle.

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Diagnosis

The doctor will ask about 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 problems such as:

  • Inguinal hernia
  • Cleft lip or palate
  • Undescended testicles

Prevention

There are no known guidelines to prevent Aarskog syndrome.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://rarediseases.org/rare-diseases/aarskog-syndrome.
  • Cleft lip and palate. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/cleft-lip-and-palate.

Contributors

  • Kari Kuenn, MD
Last Updated:
2022-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.