Aarskog Syndrome

Also known as

  • Aarskog-Scott Syndrome

Aarskog syndrome is an extremely rare genetic disorder marked by growth restriction that may not become obvious until the child is about three years of age. Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

Condition details

Aarskog syndrome primarily affects males who exhibit a characteristic set of facial, skeletal, and genital abnormalities. In some cases, female carriers may develop a mild form of the disorder. Symptoms may vary from case to case. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional characteristic facial features include widely spaced eyes, drooping of the eyelids, downwardly slanting eyelid folds, a small nose with nostrils that are flared forward, an underdeveloped upper jawbone, and a widow’s peak. Affected individuals may also have an abnormally long groove in the upper lip and a broad nasal bridge. Affected individuals may also have a variety of abnormalities affecting the ears and teeth. Ear abnormalities include low-set ears and thickened, “fleshy” earlobes. Dental abnormalities include missing teeth at birth, delayed eruption.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult


Lay terms Clinical terms
  • Widely spaced eyes
  • drooping eyelids
  • a rounded face with a broad forehead.
  • Ocular hypertelorism
  • ptosis
Lay terms Clinical terms
  • Sunken chest
  • protrusion of portions of the large intestine through an abnormal opening in the muscular lining of the abdominal cavity. A prominent navel. Approximately 50 percent of individuals with Aarskog syndrome have spinal abnormalities such as incomplete closure of the bones of the spinal column
  • fusion of the upper bones of the spinal column and underdevelopment and projection of the second cervical vertebra. Males with Aarskog syndrome develop genital abnormalities including an abnormal fold of skin extending around the base of the penis and/or failure of one or both of the testes to descend into the scrotum. In addition
  • the urinary opening (meatus) may be located on the underside of the penis.
  • pectus excavatum inguinal hernia umbilicus spina bifida occulta cervical vertebrae odontoid hypoplasi “shawl” scrotum cryptorchidism hypospadias

Affected genes identified to date

  • FGD1

Inheritance patterns

Is X-linked

Are carriers affected?

Carriers can sometimes be mildly affected.

How many are affected?

0.4 per million

Support groups and organisations

Miss Michelle Erskine
The Aarskog Foundation
Tel 0800 0016623
Facebook https://www.facebook.com/aarskogsyndromefoundation

Known experts

No experts found

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