Definition Return to top
Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies.
Causes, incidence, and risk factors Return to top
Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome.
mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
possible delayed sexual maturation
hairline has a "widow's peak"
wide set eyes with droopy eyelids
small nose with nostrils tipped forward
underdeveloped mid-portion of the face
wide groove above the upper lip, crease below the lower lip
delayed eruption of teeth
top portion of the ear folded over slightly
small, broad hands and feet with short fingers and in-curving 5th finger
short fingers and toes with mild webbing
simian crease (single) in palm of hand
protruding belly button
"shawl" scrotum, undescended testicles
mild to moderate mental deficiency
eyes have downward palpebral slant
pectus excavatum (mildly sunken chest)
Signs and tests
X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.
Treatment Return to top
Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.
Support Groups Return to top
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Expectations (prognosis) Return to top
Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.
Complications Return to top
Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.
Calling your health care provider Return to top
Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here. Seek genetic counseling if there is Aarskog syndrome in your family. Seek evaluation by a geneticist if your doctor thinks you or your child may have Aarskog syndrome.
Prevention Return to top
There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation.
Update Date: 1/30/2004
Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
Synonyms of Aarskog Syndrome
Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild mental retardation.
Organizations related to Aarskog Syndrome
Aarskog Syndrome Parents Support Group
62 Robin Hill Lane;Levittown PA 19055-1411Phone #: 215-943-7131800 #: --e-mail: email@example.comHome page: N/A
National Craniofacial Foundation
3100 Carlisle Street;Dallas TX 75204;Phone #: --800 #: 800-535-3643;e-mail: N/AHome page: N/A