Aarskog-Scott syndrome, X-linked

Aarskog-Scott syndrome (AAS) is a rare developmental disorder that affects the face, limbs, and genital areas, and is associated with a disproportionate short stature. The condition is characterized by distinct physical features that can include differences in facial structure as well as limb and genital formation. People with this condition may show features that set them apart from their typically developing peers. Although individual experiences vary, the observed variations in facial, limb, and genital features along with a shorter overall stature are notable aspects of the syndrome.

People with Aarskog-Scott syndrome often have distinct physical features. These include differences in the structure of the face, limbs, and genital area. Additionally, a hallmark of the condition is a disproportionate, acromelic short stature. Further details about the spectrum of symptoms are not comprehensively provided.

Aarskog-Scott syndrome is caused by changes in the FGD1 gene. The condition follows an X-linked pattern of inheritance, meaning the genetic change is associated with the X chromosome. This explains why the condition tends to affect people differently based on their sex.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.