Main AHCA Website

AHCA’s main website for information on Medicaid, Health Quality Assurance and the Florida Center for Health Information and Transparency.

Go >

Florida Health Information Network

This website provides information and resources relating to AHCA’s initiatives for Health Information Technology and Health Information Exchange.

Go >


FloridaHealthFinder.gov

Provides health education and information to compare and locate health care providers in Florida to make well-informed health care decisions.

Go >
AHCA Network of Websites

Health Education


Health Encyclopedia

Search the Health Encyclopedia

Aarskog syndrome

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

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).

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" scrotum, 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

Exams and Tests

  • Genetic testing for changes (mutations) in the FGD1 gene
  • X-rays

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.

Outlook (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.

Possible Complications

  • Changes in the brain
  • Difficulty growing in the first year of life
  • Poorly aligned teeth
  • Seizures
  • Undescended testicle

When to Contact a Medical Professional

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.

Prevention

Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.

Review Date:10/29/2013
Reviewed By:Chad Haldeman-Englert, MD, FACMG, 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, Bethanne Black, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional 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. © 1997-A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

adam.com

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.

Health
Outcome Data

No data available for this condition/procedure.

Read More

Seizures *

Sex-linked recessive

Short stature


* Has Related Health Outcome Information

Health Encyclopedia

More Features

We Appreciate Your Feedback
1. Did you find this information useful?
         Yes
         No

2. Would you recommend this website to family and friends?
         Yes
         No