Aarskog Syndrome

Jagdish Kathwate
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Aarskog Syndrome - Patient Education
What is Aarskog Syndrome?
Aarskog syndrome is a rare genetic disorder caused by a mutation of X-chromosome. This disorder can affect your child’s stature, facial features, genitalia, muscles, and bones.

How Does Aarskog Syndrome Occur?
Aarskog syndrome is an inherited disorder. It is caused by a mutation on your faciogenital dysplasia gene, or FGD1 gene, which is linked to your X-chromosome. X-chromosomes are passed down from parents to their children. Males have only one X-chromosome, so male children of a woman who carries the genetic defect will likely have Aarskog syndrome.
Females have two X-chromosomes, so if one of their chromosomes carries the defect, their other chromosome will compensate. So, females may be carriers or may develop a milder form of the disorder.
Aarskog syndrome affects four major areas of your child’s anatomy: his or her facial features, muscle and bone structure, genitalia, and brain.
Facial Features
If your child has Aarskog syndrome, he or she may have distinctive facial features, including:
• a widow’s peak hairline
• forward-slanting nostrils
• an unusually broad or small nose
• a round face
• wide-set eyes
• slanted eyes
Muscle and Bone Structure
Aarskog syndrome can also cause your child’s muscles and bones to be mildly to moderately malformed. Signs of these malformations include:
• short stature
• an indented chest
Genital Malformations
Atypical genital formation and development are common signs of Aarskog syndrome and often include the following:
• a lump in the scrotum or groin, also known as a hernia
Brain Development
Aarskog syndrome can also cause mild to moderate mental deficiencies, including:
• slow cognitive performance
• attention deficit disorder (ADHD/ADD)
• delayed cognitive development

How Is Aarskog Syndrome Diagnosed?
Your doctor will examine your child’s facial features to determine whether he or she has Aarskog syndrome. Your doctor will typically conduct a full physical examination and ask about your family’s medical history. If Aarskog syndrome is suspected, your physician may order genetic testing to confirm the presence of mutations on your child’s FGD1 gene.

How Is Aarskog Syndrome Treated?
Unfortunately, there is no cure for Aarskog syndrome. Treatment is typically limited to correcting any abnormalities in your child’s bones, tissue, and teeth. Treatment will probably involve surgical procedures, such as:orthodontic and dental surgery to repair skewed teeth and abnormal bone structure


Aarskog Syndrome Aarskog Syndrome 8/1/2015
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