Aarskog syndrome
Aarskog Syndrome
Aarskog syndrome (pronounced: /ˈɑːrskɒɡ/), also known as Aarskog-Scott syndrome or Faciodigitogenital syndrome, is a rare genetic disorder characterized by specific anatomical abnormalities. The syndrome is named after the Norwegian pediatrician and human geneticist Dagfinn Aarskog who first described it in 1970.
Etymology
The term "Aarskog" is derived from the Norwegian pediatrician Dagfinn Aarskog, who first identified the syndrome. The term "syndrome" comes from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "running together".
Definition
Aarskog syndrome is a genetic disorder that affects the development of many parts of the body. The syndrome is characterized by short stature and facial abnormalities such as a round face, widely spaced eyes (hypertelorism), a small nose, and a broad bridge of the nose. Other features may include an unusual crease in the skin that runs from the nose to the upper lip (philtrum), and a prominent forehead.
Symptoms
Symptoms of Aarskog syndrome can vary greatly among individuals. Some may have mild symptoms, while others may have more severe symptoms. Common symptoms include:
- Short stature
- Facial abnormalities
- Widely spaced eyes (hypertelorism)
- Small nose with a broad bridge
- Unusual crease in the skin that runs from the nose to the upper lip (philtrum)
- Prominent forehead
- Mild to moderate intellectual disability
- Undescended testicles (cryptorchidism) in males
Causes
Aarskog syndrome is caused by mutations in the FGD1 gene. This gene provides instructions for making a protein that is involved in the development of the cells that form the tissues and organs of the body.
Treatment
There is no cure for Aarskog syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational support, and surgical intervention for specific abnormalities.
See also
External links
- Medical encyclopedia article on Aarskog syndrome
- Wikipedia's article - Aarskog syndrome
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