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Aarskog Syndrome

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by Alan R

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

 

Symptoms

The main symptoms of Aarskog syndrome are:
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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RESOURCES

International Birth Defects Information Systems
http://www.ibis-birthdefects.org

National Organization for Rare Disorders
http://www.rarediseases.org

 

CANADIAN RESOURCES

Canadian Paediatric Society
http://www.cps.ca

Health Canada
http://www.hc-sc.gc.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. Accessed May 29, 2014.


Aarskog syndrome. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org/search/rdbdetail%5Fabstract.html?disname=Aarskog%20Syndrome. Published 2012. Accessed May 29, 2014.


Cleft lip and palate. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated August 17, 2012. Accessed May 29, 2014.


Orrico A, Galli L, Faivre L, Clayton-Smith J,Azzarello-Burri SM, Hertz JM, Jacquemont S, et al. Aarskog–Scott Syndrome: Clinical Update and Report of Nine Novel Mutations of the FGD1 Gene. Am J Med Genet. Part A 152A: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;242:237-247.

 

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