Aarskog Syndrome

Written by Suzanne Allen | Published on August 7, 2012
Medically Reviewed by George Krucik, MD on August 7, 2012

What is Aarskog Syndrome?

Aarskog syndrome is a very rare genetic disorder caused by a mutation on your child’s X-chromosome. This disorder can affect your child’s stature, facial features, genitalia, muscles, and bones. It primarily affects males. However, females may develop a milder version of the disorder. Symptoms usually become apparent by about age 3. Unfortunately, Aarskog syndrome is a lifelong condition without a cure.

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.

What Are the Risk Factors for Aarskog Syndrome?

Two factors can increase your child’s likelihood of having Aarskog syndrome: gender and genetic makeup. If your child is male, he is more likely to develop Aarskog syndrome because he has only one X-chromosome. Also, if you, the mother, carry the defective gene for Aarskog syndrome, your child is at an increased risk of developing the disorder.

What Does Aarskog Syndrome Look Like?

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
  • a wide indention above the upper lip
  • ears that fold down at the top
  • sagging eyelids
  • delayed growth of teeth

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
  • short toes and fingers
  • webbed toes and fingers
  • one crease in the palms of the hands
  • curled pinky fingers

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
  • testicles that have not descended
  • delayed sexual maturation
  • a misshapen scrotum

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. Additionally, head X-rays may help your doctor determine the severity of the malformations caused by Aarskog syndrome.

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
  • hernia repair surgery to take out a groin or scrotum lump
  • testicle surgery to allow the testicles to descend

Other treatments involve supportive assistance for cognitive and developmental delays. If your child has been diagnosed with attention deficit disorder, you may want to seek psychiatric assistance to help manage the problem. A behavioral specialist or counselor can teach you parenting skills and coping strategies for raising a special-needs child.

Preventing Aarskog Syndrome

Unfortunately, there is no way to prevent Aarskog syndrome. However, women can undergo genetic testing to determine whether they carry a mutated FGD1 gene. If genetic testing reveals that you carry this mutated gene, you can weigh the risks when choosing whether or not to have children.

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