What is Aarskog Syndrome?

An inherited disease that is linked to the X chromosome, this is caused by gene FGDY1 mutations. It affects muscles, facial features, genitals, height, and the skeleton. Females can get a milder form than males get.

Symptoms

Signs of Aarskog syndrome include delayed teeth and sexual maturity, inguinal hernia, a belly button that protrudes, downward slant to the eyes, widow's peak hairline, mild to moderate mental problems and short stature, and mildly sunken chest. Other symptoms can include wide-set eyes, droopy eyelids, wide groove on top of upper lip, a crease below lower lip, small nose, small hands and feet, short fingers, top of the ear folded slightly over, rounded face, undescended testicles and "shawl" scrotum, poorly developed face midportion, short toes, mild webbing on toes and fingers, and a crease in the palm of hand.

Diagnosis

To prove a diagnosis for this condition, there can be x-rays ordered and genetic testing. Genetic testing will try to show mutations in the FGDY1 gene.

Treatment

For those with abnormal facial features, moving the teeth can help with some of that. There may be other orthodontic treatments given for facial mutations. There is a general good outlook for most sufferers of this condition. There can be some mental slowness but overall good social skills. There may be some complications, including seizures, poorly aligned teeth, cystic brain changes, and difficulty growing during the first year of life.

Genetic testing can be done for those with a family history of these symptoms or for the condition itself. Aarskog syndrome is also known as facial-digital-genital syndrome.

Source: A.D.A.M.