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Aarskog Syndrome


About this topic


Aarskog syndrome is a health problem that a child is born with. It affects a childs height, look of the face, and genitals. There may be other affects not listed here. It is more common in males, but can be found as a mild form in females. Children with Aarskog syndrome have a genetic problem that has been passed on. Chromosomes are passed to children from both a mother and a father. Sometimes, there can be changes in the chromosomes passed to the child. This change in chromosomes is what causes this health problem. ‚  

What are the causes?


Change in the gene called FGD1 is what causes the problem. ‚  

What are the main signs?


  • Being short, especially during childhood

  • Face changes including wide eyes with droopy eyelids, round face, and eyes that slant down

  • Hands, feet, and neck are shorter than normal

  • Scrotum goes all the way around the penis

  • Delayed growth of teeth

  • Mildly sunken chest

  • Bulge in the groin or scrotum called a hernia


How does the doctor diagnose this health problem?


The doctor will take your childs history and do an exam. The doctor may order: ‚  
  • X-rays

  • Genetic tests


How does the doctor treat this health problem?


There is no cure for Aarskog syndrome. Treatment is based on any problems found from the exam and tests. ‚  

What problems could happen?


  • Testicles that do not go down on their own

  • Trouble growing tall, but catch up can happen after puberty

  • Crooked teeth


What can be done to prevent this health problem?


Nothing can be done to prevent the problem unless you had a family history of the disease. If you have a family history of this health problem, genetic testing may be done to find out about the disease. Counseling may be helpful if you wish to have children. ‚  

Helpful tips


  • Join a support group. Talking with people who have the same illness may help make coping easier.

  • Tell your family about your childs illness and how they can help.

  • Tell your child about the illness and help your child learn how to live with it.


Where can I learn more?


Genetics Home Reference ‚  
http://ghr.nlm.nih.gov/gene/FGD1 ‚  
http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome ‚  
http://ghr.nlm.nih.gov/handbook/basics ‚  
National Institutes of Health Office of Rare Diseases Research ‚  
http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=4775 ‚  
National Organization for Rare Diseases ‚  
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/615/viewAbstract ‚  

Consumer Information Use and Disclaimer


This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚  

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