Overview
McCune-Albright syndrome (MAS) describes a set of features seen due to a random somatic mutation in the GNAS gene on the long arm of chromosome 20. It is not inherited.
Epidemiology
- McCune-Albright syndrome is rare and has a prevalence of up to 1 in 100,000
- McCune-Albright Syndrome is sporadic and is not inherited
Presentation
- Café-au-lait spots
- Precocious puberty
- Polyostotic fibrous dysplasia – where multiple bones (polyostotic) are replaced with fibrous tissue leading to weak, unstable, and deformed bones
