What Is Aarskog Syndrome?
Aarskog syndrome, or Aarskog-Scott syndrome, is a very rare
genetic disorder caused by a mutation of the X chromosome. This disorder can affect
- facial features
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.
What Are the Symptoms of Aarskog Syndrome?
Aarskog syndrome affects these major areas of a child’s anatomy:
- their facial features
- their muscle and bone structure
- their genitalia
- their brain
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 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
- testicles that haven’t descended
- delayed sexual maturation
- a misshapen scrotum
Aarskog syndrome can also cause mild to moderate mental
- slow cognitive performance
- attention deficit hyperactivity disorder (ADHD)
- delayed cognitive development
What Causes Aarskog Syndrome?
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.
Who Is at Risk for Aarskog Syndrome?
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.
How Is Aarskog Syndrome Diagnosed?
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.
What Are the Treatments for Aarskog
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
- testicular surgery to allow the testicles to
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.
How Can I Prevent Aarskog Syndrome?
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.