Aarskog Syndrome Symptoms, Diagnosis & Treatment

Aarskog Syndrome Symptoms

Persons suffering from Aarskog Syndrome will have any or most or all of the following symptoms:

·         Delayed teething

·         Delays in sexual maturity

·         Bulges in scrotums or groin area

·         Belly button

·         Eyes will have downward palpebral slant

·         Widow’s peak on hairline

·         Sunken chest (mildly)

·         Mental problems (ranging from mild to medium)

·         Short stature

·         Middle section of the face will be poorly developed

·         Shawl scrotum i.e. testis might not have descended down

·         Webbing in between toes

·         short sized fingers

·         Hands and feet in smaller and broader size

·         Nose will be smaller with nostrils tipped forward

·         Top portion of ear might be folded over slightly

·         Eyes will be wide-set

·         eyelids will be drooping

Diagnosis of Aarskog Syndrome

For the confirmation of Aarskog Syndrome, doctors suggest for X ray tests and genetic testing for mutations in FGD1 gene.

Treatment: For treating the abnormalities in the face, orthodontic treatment might be done. There is no actual and complete treatment for Aarskog Syndrome since it is a genetic disorder.

Possible Complications: Those who are suffering from Aarskog Syndrome might witness complications like undescended testicles, seizures, improperly aligned teeth, difficulty in growth and development, changes in brain.