Symptoms Of Aarskog Syndrome

Aarskog syndrome is a genetic disease mostly affecting males. This is due to a defective FGD1 gene on the X chromosome. Females have two X chromosomes, allowing a defective gene to be overwritten by a normal gene. Males, since they have just one X chromosome, have no normal gene to compensate if a defective gene is present. There are many symptoms associated with Aarskog syndrome, including bone and muscle abnormalities, genital defects, facial deformities, and cognitive delays.