Aarskog Syndrome
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Definition
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.
Alternative Names
Facial-digital-genital syndrome
Causes, incidence, and risk factors
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).
Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Facial-digital-genital syndrome
Symptoms
- 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
Signs and tests
Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Facial-digital-genital syndrome
Treatment
Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
Support Groups
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Expectations (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.
Complications
Changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Seizures
Undescended testicle
Calling your health care provider
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.
Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Facial-digital-genital syndrome
Prevention
Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.
Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
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 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.