MedlinePlus Medical Encyclopedia: Aarskog syndrome

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Aarskog syndrome

Contents of this page:
Illustrations Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

The face

Simian crease

Pectus excavatum

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.

Symptoms Return to top

mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
possible delayed sexual maturation
rounded face
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
inguinal hernias
"shawl" scrotum, undescended testicles
mild to moderate mental deficiency
eyes have downward palpebral slant
pectus excavatum (mildly sunken chest)

Signs and tests Return to top

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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.