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Aarskog syndrome

The 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.

Clinical spectrum

The major facial manifestations of this syndrome include

Pathology

Genetics

It commonly carries an X linked inheritance.  However, sex influenced autosomal dominant inheritance is also possible in some families.

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