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Definition:
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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.
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Alternative Names:
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Facial-digital-genital syndrome
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Causes, incidence, and risk factors:
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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).
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Symptoms:
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- Belly button that sticks out
- Bulge in the groin or scrotum (inguinal hernia)
- Delayed sexual maturity
- Delayed teeth
- Downward palpebral slant to eyes
- Hairline with a "widow's peak"
- Mildly sunken chest (pectus excavatum)
- Mild to moderate mental problems
- 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
- Rounded face
- "Shawl" scotum, 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
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Signs and tests:
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- Genetic testing for changes (mutations) in the FGD1 gene
- X-rays
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Treatment:
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Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
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Support Groups:
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The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
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Expectations (prognosis):
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Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.
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Complications:
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- Changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Seizures
- Undescended testicle
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Calling your health care provider:
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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.
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Prevention:
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Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.
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