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.
Receive updates on the latest news and alerts straight to your inbox.
This site offers information designed for educational purposes only. You should not rely on any information on this site as a substitute for professional medical advice, diagnosis, treatment, or as a substitute for, professional counseling care, advice, diagnosis, or treatment. If you have any concerns or questions about your health, you should always consult with a physician or other healthcare professional.