Aarskog syndrome

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.

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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

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