Treatments For Aarskog Syndrome

Aarskog syndrome is a very rare genetic disorder that primarily affects males, though females can develop a milder version. Caused by a mutation in the X chromosome, it causes abnormalities in stature as well as the development of facial features, muscles, bones, and genitalia. Symptoms typically begin to present fully around the age of three. Individuals with Aarskog syndrome can present with a rounded face and broad forehead. The eyes can be spaced widely apart and slanted downwards. Individuals may have an underdeveloped upper jawbone and a small nose. The lips, teeth, and ears can also display a variety of visible abnormalities.