Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.
Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).
Mild to moderate short height (stature), which may not be obvious until the child is 1 - 3 years old
Poorly developed middle section of the face
"Shawl" scrotum, testicles that have not come down (undescended)
Short fingers and toes with mild webbing
Single crease in the palm of the hand
Small, broad hands and feet with short fingers and curved-in fifth finger
Small nose with nostrils tipped forward
Top portion of the ear folded over slightly
Wide groove above the upper lip, crease below the lower lip
Wide-set eyes with droopy eyelids
Exams and Tests
Genetic testing for changes (mutations) in the FGD1 gene
Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.
Changes in the brain
Difficulty growing in the first year of life
Poorly aligned teeth
When to Contact a Medical Professional
Call your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.
Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.