Radiopaedia 2021 UPDATE Conference-only registration is now closed. Late registration for All-Access Pass and Free Country Pass holders has been extended until Friday 30 July - LEARN MORE

Aarskog syndrome

Dr Daniel J Bell and Radswiki et al.

Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.

Population prevalence is estimated to be 1/25,000, with a male predominance.

The major manifestations of this syndrome include:

It commonly carries an X-linked inheritance. However, sex-influenced autosomal dominant inheritance is also seen in some families. The FDG1 gene on the X-chromosome is the only known gene associated with Aarskog syndrome, implicated in 22% of affected males.

A Norwegian pediatric endocrinologist, Dagfinn Aarskog, first described the syndrome that now bears his name 6,7 in 1970. In the following year Charles I Scott, Jr, a still practising (fl. 2021) pediatrician in the USA described similar imaging findings 8,9.

Article information

rID: 14915
System: Obstetrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Aarskog's syndrome
  • Facial-digital-genital syndrome
  • Aarskog-Scott syndrome
  • Aarskog-Scott syndrome (AAS)
  • Facio-digito-genital syndrome
  • shawl scrotum syndrome
  • faciogenital dysplasia
  • Faciodigitalgenital syndrome
  • Aarskog disease
  • FGDY
  • Scott Aarskog syndrome

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.