Aarskog syndrome, also known as Aarskog-Scott syndrome, is a relatively rare genetic disorder caused by a mutation in the X chromosome. While this condition primarily affects males, females can also be affected, albeit with milder symptoms. Aarskog syndrome impacts various aspects of a child’s development, including their facial structure, muscles and bones, genitals, brain, and overall physical stature. Typically, the symptoms of Aarskog syndrome become noticeable by the age of three, and unfortunately, there is currently no known cure for this condition.
Causes of Aarskog Syndrome
Aarskog syndrome is a genetic disorder that is inherited. It is caused by a mutation in the FDG1 gene, also known as the faciogenital dysplasia 1 gene. This mutation is responsible for the development of Aarskog syndrome.
In terms of inheritance, boys are more likely to be affected by Aarskog syndrome because they have only one X chromosome. If a male child is born to a woman who is a carrier of the Aarskog syndrome genetic mutation, he is likely to be affected.
On the other hand, girls have two X chromosomes. Even if they inherit one X chromosome with the mutation for Aarskog syndrome, it is likely that their other X chromosome will be normal and can compensate. As a result, girls with the Aarskog syndrome genetic mutation may either become carriers or develop the condition only mildly.
Facial Features of Aarskog Syndrome
Individuals with Aarskog syndrome typically exhibit unique facial characteristics. These include a round face and eyes that are notably wide-set or slanted. The eyelids may appear droopy, and the nose can be abnormally small or wide, with nostrils that slant. Additionally, people with Aarskog syndrome often have ears that fold downward and may have a distinctive widow’s peak. Furthermore, this condition can result in delayed tooth growth.