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What is Aarskog Syndrome?

Aarskog Syndrome is a rare genetic condition, marked by distinctive facial features, growth delays, and skeletal anomalies. It's linked to the X chromosome, affecting mainly males. Through vivid imagery, we'll guide you through the syndrome's characteristics and impacts on those diagnosed. How might these insights change your perception of genetic disorders? Join us to uncover the stories behind the science.
Emma Lloyd
Emma Lloyd

Aarskog syndrome is a rare genetic disorder that affects several aspects of physical development both before and after birth. Children born with this disorder tend to be of short stature, have distinctive facial features and might also have deficient mental development. This syndrome, also known as Aarskog-Scott syndrome, is named for the two scientists, Norwegian pediatrician Dagfinn Aarskog and American geneticist Charles Scott, who independently described the syndrome in 1970 and 1971, respectively.

Aarskog syndrome is an X-linked recessive chromosomal disorder. This means that the affected gene, called the faciogenital dysplasia or FGDY1 gene, is located on the X-chromosome. Women who carry a copy of the defective gene have a 50 percent chance of passing the gene to a son or daughter. A daughter with the defective gene is a carrier and might have mild symptoms. A son with the defective gene will have the full syndrome. As a result of the way the syndrome is inherited, it is more common in males than in females.

Genetic testing can confirm a diagnosis of Aarskog Syndrome.
Genetic testing can confirm a diagnosis of Aarskog Syndrome.

A child who has Aarskog syndrome will tend to display a wide range of physical characteristics. He or she will tend to be shorter than average, with short fingers and toes, and might not experience a growth spurt during adolescence. Characteristic facial features include wide-set eyes and drooping eyelids, delayed tooth growth, a small nose, a broad philtrum and a widow’s peak hairline. Many children with this condition have deficient or delayed mental development and might have attention deficit disorder or hyperactivity disorder. Other characteristics might include a short neck with a webbed appearance, a slightly webbed appearance between fingers and toes and undescended testicles.

Aarskog syndrome is an X-linked recessive chromosomal disorder.
Aarskog syndrome is an X-linked recessive chromosomal disorder.

Children who are born with Aarskog syndrome might undergo genetic testing and other diagnostic tests to confirm the diagnosis. This typically involves genetic profiling of a blood sample to determine whether a defective copy of the FDGY1 gene is present. If a child is found to have the syndrome, the child's parents generally will be offered genetic counseling, which is necessary to prepare parents for the possibility that future children might inherit the defective gene.

Genetic profiling of a blood sample may be used to test for Aarskog syndrome.
Genetic profiling of a blood sample may be used to test for Aarskog syndrome.

Aarskog syndrome is not a disorder that can be treated, and no treatment is necessary, because this is not a progressive disorder. In some cases, potentially harmful defects do exist. These include structural heart defects and the development of fluid-filled cysts in some parts of the body.

Although many children with this syndrome have no disabling physical problems, other issues can arise. The most common of these is low self-esteem or social difficulties because of perceived differences between the child and his peers. Some parents opt for surgical or orthodontic procedures to correct physical abnormalities in order to help solve these problems.

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    • Genetic testing can confirm a diagnosis of Aarskog Syndrome.
      By: lily
      Genetic testing can confirm a diagnosis of Aarskog Syndrome.
    • Aarskog syndrome is an X-linked recessive chromosomal disorder.
      By: Giovanni Cancemi
      Aarskog syndrome is an X-linked recessive chromosomal disorder.
    • Genetic profiling of a blood sample may be used to test for Aarskog syndrome.
      By: frog-travel
      Genetic profiling of a blood sample may be used to test for Aarskog syndrome.
    • In rare cases, children who suffer from attention deficit hyperactivity disorder (ADHD) may also exhibit signs of Aarskog syndrome.
      By: Ermolaev Alexandr
      In rare cases, children who suffer from attention deficit hyperactivity disorder (ADHD) may also exhibit signs of Aarskog syndrome.