Aarskog-Scott syndrome, also known as Aarskog 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 and the Scottish medical geneticist Ian Scott, who both independently described the syndrome in the 1970s.
Aarskog-Scott 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-Scott syndrome is not well understood.
The symptoms of Aarskog-Scott 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-Scott 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-Scott syndrome can cause a small penis and testicles, while in females it can cause a short vaginal opening.
- Other features: Additional features of Aarskog-Scott syndrome can include developmental delays, mild intellectual disability, and attention deficit hyperactivity disorder (ADHD).
Aarskog-Scott 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-Scott 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-Scott syndrome, with appropriate medical care and support, most people with the condition can lead relatively normal lives.