Aarskog-Scott Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Aarskog syndrome, or Aarskog-Scott syndrome, is a rare genetic condition caused by a mutation on the X chromosome. This disorder can affect many aspects of an individual –including stature, facial structure, genitalia, muscles, and bones.
This condition generally occurs in men. However, women can experience a milder form of this disorder. Signs and symptoms generally begin to appear from the age of three.
Aarskog-Scott Syndrome Symptoms
Aarskog syndrome can involve certain areas of a child’s anatomy, especially facial structures, muscle and bone structures, genitalia, and abnormalities in the brain.
In children with Aarskog syndrome, several facial structures that can be observed are:
- Widow’s peak at the hairline
- The nostrils are tilted forward
- The shape of the nose is too wide or too small
- Round face
- The distance between the eyes
- Slanted eyes
- Delayed puberty and sexual maturity
- Wide indent above the upper lip
- Delayed growth of teeth
Aarskog syndrome can also cause malformations of muscles and bones, from mild to moderate degrees. Some things that can be observed are:
- Short stature
- Indentation on the chest
- Short fingers and toes
- Crooked little finger
Genital malformations and disorders of genital development can also be found in Aarskog syndrome, with signs and symptoms including:
- A lump in the scrotum or groin, which is also known as a hernia
- Undescended testicles
- Delay in sexual maturity
- Irregular shape of the scrotum
Aarskog syndrome can also indicate a mild to moderate mental deficiency, in the form of:
- Slow cognitive performance
- Attention deficit disorder and hyperactivity
- Delay in cognitive development
Aarskog-Scott Syndrome Reason
Aarskog syndrome is an inherited disorder, resulting from a mutation in the fasciogenital dysplasia 1 gene, or FGD1 gene. The gene is found on the X chromosome, one of the chromosomes that is passed from parent to child.
Men have only one X chromosome, which they get from their mother. While women have two X chromosomes, one obtained from the mother and one obtained from the father.
Therefore, men who inherit the X chromosome with this gene mutation from their mother will experience Aarskog syndrome. However, women who have one X chromosome with the mutation, one X chromosome that does not have the mutation may show compensation. The woman may only be a carrier or have a milder form of the disorder.
Diagnosis
The diagnosis of Aarskog syndrome can be determined based on medical interviews, physical examination, and certain investigations. The doctor will ask about the history of complaints experienced and family medical history.
During a physical examination, the doctor can examine the child’s facial appearance to determine whether there are features of the facial appearance of Aarskog syndrome. In addition, a thorough physical examination can also be done.
If it is suspected that there are signs that lead to Aarskog syndrome, the doctor can carry out a genetic examination to confirm the presence of a mutation in the FGD1 gene in the child. In addition, X-rays of the head can help doctors determine the severity of the malformations caused by Aarskog’s syndrome.
Aarskog-Scott Syndrome Treatment
Treatment for Aarskog syndrome is aimed at correcting abnormalities in the child’s bones, tissues or teeth. Treatment can involve surgery, such as:
- Dental surgery or orthodontic procedures to correct crooked teeth and abnormal bone structure
- Hernia repair surgery to correct a lump in the scrotum or groin
- Testicular surgery to help with testicular descent
Other treatments can be in the form of assistance with cognitive and developmental delays. In children with ADHD, psychiatric assistance can help overcome the conditions they are experiencing.
Children with Aarskog syndrome may also need additional emotional support as a result of their physical and social difficulties.
Prevention
Because Aarskog syndrome is caused by a certain genetic mutation, there isn’t yet a completely effective way to prevent someone from developing the condition.
However, women can undergo genetic testing before conceiving. This way it can be known whether they are carriers of the FGD1 gene which has a mutation, although this is rarely done considering the condition is quite rare.