Aarskog-Scott syndrome (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assistant Editors-In-Chief: Alexandra M. Palmer, Kristin Feeney, B.S. [2]

Overview

Aarskog-Scott syndrome an inherited, genetic disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. As an inherited disease, Aarskog-Scott syndrome is pass down through family lineages. This condition mainly affects males, although females may have mild features of the syndrome.

What are the symptoms of Aarskog-Scott syndrome?

Symptoms of Aarksog-Scott syndrome include:

• Belly button that sticks out
• Bulge in the groin or scrotum (inguinal hernia)
• Delayed sexual maturation
• Delayed teeth
• Downward slant to eyes
• Hairline with a "widow's peak"
• Long area between the nose and mouth (philtrum)
• Mildly sunken chest (pectus excavatum)
• Mild to moderate neurological delay
• Mild to moderate short stature which may not be obvious until the child is 1 - 3 years old
• Poorly developed midportion of the face
• Rounded face
• Shawl scrotum in which the scrotum surrounds the penis; less often, males have undescended testicles (cryptorchidism)
• Short fingers and toes with mild webbing (syndactyly)
• Single crease in palm of hand (simian crease)
• Small, broad hands and feet with short fingers (brachydactyly) and curved-in 5th finger (fifth finger clinodactyly)
• Small nose with nostrils tipped forward
• Soft out-pouching around the belly-button (umbilical hernia)
• Top portion of the ear folded over slightly
• Wide groove above the upper lip, crease below the lower lip
• Wide-set eyes (hypertelorism) with droopy eyelids

Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate).

What causes Aarskog-Scott syndrome?

Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).

Who is at risk for Aarskog-Scott syndrome?

Aarskog-Scott syndrome is a genetic disorder. Anyone with a family history of Aarskog-Scott syndrome is at risk.

How to know you have Aarskog-Scott syndrome?

• Genetic testing for mutations in the FGDY1 gene
• X-rays

When to seek urgent medical care

Call your health care provider if your child has delayed growth or if you notice any of the symptoms described here. Seek genetic counseling if there is a history of Aarskog-Scott syndrome in your family. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog-Scott syndrome.

Treatment options

Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.

Diseases with similar symptoms

• Fetal alcohol syndrome
• Down syndrome

Where to find medical care for Aarskog-Scott syndrome

Directions to Hospitals Treating Aarskog-Scott syndrome

Prevention of Aarskog-Scott syndrome

Prenatal testing may be available for those with a family history of the condition or known mutation of the gene. As it is an inherited disease, there are no prevention methods after birth.

What to expect (Outlook/Prognosis)

Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility. Although people with Aarskog-Scott syndrome usually have mild to moderate short stature during childhood, their growth usually catches up during puberty.

Additional Links

Genetics Home Reference: Aarskog-Scott syndrome National Library of Medicine