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Aarskog syndrome is a rare genetic disorder that affects physical development, causing short stature, distinctive facial features, and poor mental development. It is an X-linked recessive chromosomal disorder and is more common in males. No treatment is needed, but potentially harmful flaws may exist, and some parents opt for surgical or orthodontic procedures to correct physical abnormalities.
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 short in stature, have distinctive facial features, and may also have poor mental development. This syndrome, also known as Aarskog-Scott syndrome, is named after 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 faciogenital dysplasia or the FGDY1 gene, is located on the X chromosome. Women who carry one copy of the defective gene have a 50% chance of passing the gene on to a son or daughter. A daughter with the defective gene is a carrier and may have mild symptoms. A child with the defective gene will have the full syndrome. Due to the way the syndrome is inherited, it is more common in males than females.
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 hands and feet, and may not experience a growth spurt during adolescence. Characteristic facial features include wide-set eyes and droopy lids, retarded growth of teeth, small nose, broad philtrum, and widow’s-point hairline. Many children with this condition have poor or delayed mental development and may have attention deficit disorder or hyperactivity disorder. Other characteristics might include a short neck with a webbed appearance, a slightly webbed appearance between the fingers and toes, and undescended testicles.
Children born with Aarskog syndrome might undergo genetic testing and other diagnostic tests to confirm the diagnosis. This typically involves genetic profiling a blood sample to determine if a faulty copy of the FDGY1 gene is present. If a child is found to have the syndrome, the child’s parents will usually be offered genetic counseling, which is necessary to prepare the parents for the possibility that their future children may inherit the defective gene.
Aarskog syndrome is not a disorder that can be treated and no treatment is needed because it is not a progressive disorder. In some cases, potentially harmful flaws exist. These include structural heart defects and the development of fluid-filled cysts in certain parts of the body.
While many children with this syndrome do not have disabling physical problems, other problems can arise. The most common of these is low self-esteem or social difficulties due to perceived differences between the child and his or her peers. Some parents opt for surgical or orthodontic procedures to correct physical abnormalities in order to help resolve these issues.
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