What is Aarskog-Scott syndrome?
Aarskog-Scott syndrome is a genetic condition that affects the development of many parts of the body. Physical abnormalities characterize this disorder. Some experience intellectual disabilities, but the severity varies.
The incidence of this disorder is unknown, as people with mild cases may never be diagnosed. Males are typically affected, and if females do have Aarskog-Scott syndrome they have milder symptoms.
What are the symptoms of Aarskog-Scott syndrome?
The symptoms of Aarskog-Scott syndrome include distinct facial features, such as:
- Widely spaced eyes
- Small nose
- Long area between the nose and mouth
- Widow’s peak hairline
- Cleft lip
Other physical abnormalities include:
- Short stature during childhood that corrects itself during puberty
- Short fingers
- Curved pinky fingers
- A single crease in the palm
- Webbing between the fingers
- Shawl scrotum
People with this syndrome also experience heart defects. Some may have undescended testes, umbilical hernias, and inguinal hernias.
Not everyone with this condition has an intellectual disability. Many have mild behavioral and intellectual problems, and a small minority have severe intellectual disability.
What causes Aarskog-Scott syndrome?
There has only been one known gene that is associated with this condition, but only about 20% of those affected have the mutated form of this gene. The cause for the other 80% is unknown.
The known mutated gene is the FGD1 gene, which is responsible for the protein that activates the Cdc42 protein. This protein is necessary for signaling aspects of development before birth.
The mutated FGD1 gene is inherited in an X-linked recessive pattern, which is why males are typically affected. It is suspected that other causes of the disorder are inherited in autosomal recessive or dominant patterns, but medical professionals are still unsure.
How is Aarskog-Scott syndrome diagnosed?
Doctors will conduct a clinical exam, where they will look for the characteristic findings. They will also look through medical and family history. A genetic test can confirm the diagnosis if one has the FGD1 gene mutation. If not, doctors may conduct genetic testing for other similar disorders, such as Robinow syndrome.
What are the treatments of Aarskog-Scott syndrome?
Treatment for Aarskog-Scott syndrome is symptomatic. A team of various specialists is often formed to treat the various symptoms of the disorder.
Surgery is often needed for the various physical abnormalities. Affected individuals should also receive thorough dental and eye evaluations. Growth hormones may be a treatment for short stature. Some people may require a neuropsychiatric evaluation.
Genetic counseling is recommended for affected individuals and their families.