What is Aarskog's syndrome?

Aarskog syndrome is a rare genetic disorder that affects several aspects of physical development before and after birth. Children born with this disorder tend to have a short figure, have significant facial features and may also have insufficient mental development. This syndrome, also known as Aarskog-Scott, is named for two scientists, Norwegian pediatrician Dagfinn Aarskog and American geneticist Charles Scott, who independently described syndrome in 1970 and 1971. This means that the affected gene, called facogenital dysplasia or the FGDY1 gene, is placed on the x-chromosome. Women who carry a copy of a defective gene have a 50 % chance to pass the gene to a son or daughter. The daughter with a defective gene is a carrier and may have mild symptoms. A son with a defective gene will have complete syndrome. As a result of the way the syndrome is inherited, it is more common in men than in women.

Child with Aarskog syndrome will be mTo tend to show a wide range of physical properties. He or she will tend to be shorter than average, with short fingers and fingers, and may not experience a growth procession during adolescence. Characteristic facial features include wide-built eyes and decreasing eyelids, delayed tooth growth, small nose, wide piltrum and the top of the widow. Many children with this condition have insufficient or delayed mental development and may have attention disorder or hyperactivity disorder. Other features may include a short neck with a webbed look, a slightly webbed look between the fingers and the toes and the unsealed testicles.

children born with Aarskog syndrome could undergo genetic testing and other diagnostic tests to confirm the diagnosis. This usually includes genetic blood sample profiling to determine whether a faulty copy of the FDGY1 gene is present. If a child is found to have a syndrome, the child's parents will generally offer genetic counseling, which is necessary to prepare parents for the opportunityt, that future children can inherit a defective gene.

Aarskog syndrome is not a disorder that can be treated, and no treatment is required because it is not a progressive disorder. In some cases there are potentially harmful defects. These include structural heart defects and the development of cysts filled with fluid in some parts of the body.

Although many children with this syndrome have no physical problems, there may be other problems. The most common of them is low self -esteem or social problems due to perceived differences between the child and its peers. Some parents choose surgical or orthodontic procedures to repair physical abnormalities to help solve these problems.