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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:
- short stature
- decreased bone age
- craniofacial anomalies
- ocular ophthalmic anomalies 2
- limb abnormalities
- genital anomalies
- supernumerary ribs
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.
History and etymology
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.