Aarskog syndrome or Aarskog-Scott syndrome is a rare genetic condition resulting from an X chromosome mutation. The condition normally only occurs in males, although it is possible for females to have a less severe version of the condition. Aarskog syndrome affects a child's facial structure, their muscles and bones, genitals, and brain. It can also affect stature. The condition usually becomes apparent by the time a child reaches the age of three. There is no known cure for Aarskog syndrome.
Aarskog syndrome is inherited. A mutation of the FDG1 gene, known as the faciogenital dysplasia 1 gene, causes its development. Boys have just one X chromosome, so male children born to women who are carriers are likely to be affected. Girls have two X chromosomes. Even if they inherit one X chromosome with the mutation for Aarskog syndrome, it's likely that their other one will be normal and can compensate. For this reason, girls with the Aarskog syndrome genetic mutation will become carriers or develop the condition only mildly.
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