Munson Health
Aarskog Syndrome

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by Alan R

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



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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Copyright © Nucleus Medical Media, Inc.


International Birth Defects Information Systems

National Organization for Rare Disorders



Canadian Paediatric Society

Health Canada



Aarskog-Scott syndrome. Ophanet website. Available at: Accessed May 29, 2014.

Aarskog syndrome. National Organization for Rare Disorders website. Available at: Published 2012. Accessed May 29, 2014.

Cleft lip and palate. EBSCO DynaMed website. Available at: 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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