Aarskog syndrome, or Aarskog-Scott syndrome, is a very rare genetic disorder caused by a mutation of the X chromosome. This disorder can affect a person’s:

  • stature
  • facial features
  • genitalia
  • muscles
  • bones

It primarily affects males. However, females may develop a milder version of the disorder. The symptoms usually become apparent by about three years of age. Aarskog syndrome is a lifelong condition without a cure.

Aarskog syndrome affects these major areas of a child’s anatomy:

  • their facial features
  • their muscle and bone structure
  • their genitalia
  • their brain

Facial Features

If your child has Aarskog syndrome, they may have distinctive facial features, including:

  • a widow’s peak in their hairline
  • forward-slanting nostrils
  • an unusually broad or small nose
  • a round face
  • wide-set eyes
  • slanted eyes
  • delayed puberty and sexual maturity
  • 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 muscles and bones to be mildly to moderately malformed. Signs of these malformations include:

  • a short stature
  • an indented chest
  • short toes and fingers
  • webbed toes and fingers
  • a single crease instead of multiple creases in the palms of the hands
  • curled pinky fingers

Genital Malformations

Genital malformations are atypical formations of the genitals. Genital malformations 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 haven’t 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 hyperactivity disorder (ADHD)
  • delayed cognitive development

Aarskog syndrome is an inherited disorder. It’s the result of a mutation of the faciogenital dysplasia 1 gene, or FGD1 gene. This gene links to the X chromosome. X chromosomes pass 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. If one of their chromosomes carries the defect, their other chromosome will compensate. This means that females may be carriers or may develop a milder form of the disorder.

Gender and genetic makeup are two factors that can increase the likelihood of having Aarskog syndrome. If a child is male, he’s more likely to develop Aarskog syndrome because he has only one X chromosome. Also, if the mother carries the gene for Aarskog syndrome, her child has an increased risk of developing the disorder.

Your child’s doctor can examine their facial features to determine whether they have Aarskog syndrome. The doctor will typically conduct a full physical examination and ask about your family’s medical history. If your child’s doctor suspects your child has Aarskog syndrome, they may order genetic testing to confirm the presence of mutations of your child’s FGD1 gene. Additionally, head X-rays may help your doctor determine the severity of the malformations caused by Aarskog syndrome.

There’s no cure for Aarskog syndrome. Treatment typically includes 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
  • testicular surgery to allow the testicles to descend

Other treatments involve supportive assistance for cognitive and developmental delays. If your child has ADHD, psychiatric assistance can help manage the condition. A behavioral specialist or a counselor can teach you parenting skills and coping strategies for raising a child with Aarskog syndrome.

Children with Aarskog syndrome may require additional emotional support due to any physical or social difficulties. They may develop low self-esteem if they’re troubled by any differences between themselves and their peers. Remain supportive and seek counseling for your child if you believe it will benefit them.

There’s 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 this mutated gene, weigh the risks when choosing whether or not to have children.