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. Aarskog syndrome is typically diagnosed by genetic testing in infancy or early childhood after presenting with multiple symptoms. With proper symptom-dependent treatment, those afflicted with the disease can live regular lives and have normal lifespans. Start reading now to get familiar with the trademark symptoms of Aarskog syndrome.