Aarskog Syndrome

Aarskog Syndrome

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 a person’s:

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
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


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.


What Are the Treatments for 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.

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