Aarskog syndrome, also known as Aarskog-Scott syndrome or facio-digito-genital syndrome, is a rare genetic disorder that affects many parts of the body. The syndrome is named after the Norwegian pediatrician Dagfinn Aarskog, who first described it in 1970.
Aarskog syndrome is caused by mutations in the FGD1 gene, which provides instructions for making a protein that plays a role in the development and maintenance of certain tissues in the body. The exact way that these mutations lead to the characteristic features of Aarskog syndrome is not well understood.
The symptoms of Aarskog syndrome can vary widely from person to person, but typically include:
- Facial abnormalities: These can include a broad and flattened nasal bridge, widely spaced eyes, and a small jaw.
- Short stature: People with Aarskog syndrome are often shorter than average for their age and sex.
- Skeletal abnormalities: These can include a curved spine (scoliosis), abnormally shaped fingers and toes, and joint hypermobility.
- Genital abnormalities: In males, Aarskog syndrome can cause a small penis and testicles, while in females it can cause a short vaginal opening.
- Other features: Additional features of Aarskog syndrome can include developmental delays, mild intellectual disability, and attention deficit hyperactivity disorder (ADHD).
Aarskog syndrome is diagnosed based on clinical features, such as the characteristic facial abnormalities and skeletal anomalies, as well as genetic testing to confirm the presence of mutations in the FGD1 gene.
Treatment for Aarskog syndrome is typically focused on managing the individual symptoms and addressing any complications that arise. For example, skeletal abnormalities may require orthopedic interventions, while developmental delays may benefit from early intervention therapies. While there is no cure for Aarskog syndrome, with appropriate medical care and support, most people with the condition can lead relatively normal lives.
