La syndrome di Aarski

Aarskog syndrome or Aarskog-Scott syndrome (also known as facio-digito-genital syndrome) is a rare anomaly characterized by short stature associated with a variety of structural abnormalities primarily affecting the face, distal extremities, and external genitalia. It is estimated that about 1/25,000 of the population is affected, with a male predominance.


The main manifestations of Aarskog syndrome are:

  • short,
  • craniofacial anomalies,
  • hypertelorism,
  • broad forehead,
  • wide nose bridge,
  • short nose with anteverted nostrils,
  • hair abnormality,
  • ear abnormalities,
  • dental abnormalities (missing teeth, delayed eruption, enamel hypoplasia),
  • eye ophthalmic anomalies,
  • optic nerve hypoplasia,
  • tortuosity of the retinal vessel,
  • poor eye elevation,
  • farsightedness,
  • anisometropia,
  • limb abnormalities,
  • short and wide hands,
  • brachydactyly,
  • interdigital texture,
  • hypoplasia of the middle phalanges,
  • proximal interphalangeal joint laxity with concomitant flexion and limitation of motion of the distal interphalangeal joints.
  • broad flat feet with bulbous toes.


The syndrome commonly carries an X-linked inheritance. However, an autosomal dominant inheritance influenced by sex 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.

Katherine Johnson, M.D., is a board-certified obstetrician-gynecologist with clinical expertise in general obstetrics and gynecology, family planning, women’s health, and gynecology.

She is affiliated with the Obstetrics and Gynecology division at an undisclosed healthcare institution and the online platform,

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