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.

Epidemiology

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

Clinical presentation

The major manifestations of this syndrome include

  • short stature
  • decreased bone age
  • craniofacial anomalies
  • ocular ophthalmic anomalies
    • optic nerve hypoplasia
    • retinal vessel tortuosity
    • deficient ocular elevation
    • hyperopia
    • anisometropia
  • limb abnormalities 
    • short broad hands
    • brachydactyly
    • interdigital webbing
    • hypoplasia of the middle phalanges
    • proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints
    • flat broad feet with bulbous toes
  • genital anomalies 
  • supernumerary ribs

Pathology

Genetics

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 in 1970. In the following year Charles I Scott, Jr, a still practising (2020) pediatrician in the USA described similar imaging findings .

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