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Aarskog syndrome
Background
Aarskog syndrome: Aarskog-Scott syndrome
Aarskog syndrome is a rare inherited condition described in 1970 by Dr D Aarskog and Dr C I Scott in 1971. It is a development disorder characterised by short stature with facial, genital and skeletal anomalies. The condition affects mainly males, although females may have milder features. Aarskog syndrome is associated with a wide range of features and not all features of the syndrome will be found in each individual; it affects individuals differently.
It has been estimated that the syndrome affects about 1 in 1,000,000 births but mildly affected individuals may not have been identified so the incidence may be considerably higher. Aarskog syndrome is caused by mutations in the FGDY1 gene found on the X chromosome.
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