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by Kassir K
(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

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

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
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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

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 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 

Health Canada  http://www.canada.ca 

References

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 July 6, 2018.

Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://rarediseases.org/rare-diseases/aarskog-syndrome. Published 2017. Accessed July 6, 2018.

Cleft lip and palate. EBSCO DynaMed Plus website. Available at:  https://www.dynamed.com/topics/dmp~AN~T115764/Cleft-lip-and-palate  . 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.

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