Learn About Aarskog Syndrome

What is the definition of Aarskog Syndrome?

Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited).

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What are the alternative names for Aarskog Syndrome?

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia

What are the causes of Aarskog Syndrome?

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).

What are the symptoms of Aarskog Syndrome?

Symptoms of this condition include:

  • Belly button that sticks out
  • Bulge in the groin or scrotum
  • Delayed sexual maturity
  • Delayed teeth
  • Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the inner to outer corner of the eye)
  • Hairline with a "widow's peak"
  • Mildly sunken chest (pectus excavatum)
  • Mild to moderate cognitive problems
  • Mild to moderate short height which may not be obvious until the child is 1 to 3 years old
  • Poorly developed middle section of the face
  • Rounded face
  • Scrotum surrounds the penis (shawl scrotum)
  • 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
  • Testicles that have not come down (undescended)
  • 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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What are the current treatments for Aarskog Syndrome?

Moving the teeth may be done to treat some of the abnormal dental features a person with Aarskog syndrome may have.

Who are the top Aarskog Syndrome Local Doctors?
Elite
Highly rated in
3
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Azienda Ospedaliera Universitaria Senese

Molecular Diagnosis And Characterization Of Pathogenic Mechanisms Of Rare Genetic Diseases 
Grosseto, IT 

Alfredo Orrico is in Grosseto, Italy. Orrico is rated as an Elite expert by MediFind in the treatment of Aarskog Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Aarskog Syndrome, Genital Dwarfism, Acromicric Dysplasia, and Isolated Growth Hormone Deficiency.

Distinguished
Highly rated in
2
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Azienda Ospedaliera Universitaria Senese And University Of Siena

Neuroscience Institute 
Pisa, IT 56124

Lucia Galli is in Pisa, Italy. Galli is rated as a Distinguished expert by MediFind in the treatment of Aarskog Syndrome. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Aarskog Syndrome, Genital Dwarfism, Central Core Disease, and Centronuclear Myopathy.

 
 
 
 
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Dokuz Eylul University School Of Medicine

Dokuz Eylül University, Faculty Of Medicine 
Dokuz Eylul, TR 

Korcan Demir is in Dokuz Eylul, Turkey. Demir is rated as a Distinguished expert by MediFind in the treatment of Aarskog Syndrome. They are also highly rated in 29 other conditions, according to our data. Their top areas of expertise are Aarskog Syndrome, Isolated Growth Hormone Deficiency, Neonatal Hypothyroidism, and Hypothyroidism.

What are the support groups for Aarskog Syndrome?

More information and support for people with Aarskog syndrome and their families can be found at:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/aarskog-syndrome
  • NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome
What is the outlook (prognosis) for Aarskog Syndrome?

Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.

What are the possible complications of Aarskog Syndrome?

These complications can occur:

  • Changes in the brain
  • Difficulty growing in the first year of life
  • Poorly aligned teeth
  • Seizures
  • Undescended testicles
When should I contact a medical professional for Aarskog Syndrome?

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 provider thinks you or your child may have Aarskog syndrome.

How do I prevent Aarskog Syndrome?

Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.

The face
Pectus excavatum
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What are the Latest Advances for Aarskog Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.

Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

D'Cunha Burkardt D, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 4.

Jones KL, Jones MC, Del Campo M. Moderate short stature, facial ± genital. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap D.