Fibrous Dysplasia or McCune-Albright Syndrome (FD or MAS)
Description
Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare conditions affecting bone growth. Learn about their causes, symptoms, diagnosis, and management. Discover resources for thriving with these conditions.
Genes Involved
The gene involved in Fibrous Dysplasia and McCune-Albright Syndrome is the GNAS gene. Mutations in this gene can cause abnormal bone growth and other symptoms.
Recognizing the Signs and Symptoms
Fibrous dysplasia (FD) primarily affects bone, causing bone lesions. These lesions can be painless and found anywhere in the body, but most commonly affect the skull, ribs, femur, and tibia. Symptoms can vary depending on the location and size of the lesions. In some cases, FD can cause bone pain, fractures, and deformities. McCune-Albright syndrome (MAS) is a more complex condition characterized by a combination of FD, café-au-lait spots (light brown skin patches), and precocious puberty (early puberty). Other symptoms may include endocrine disorders, such as hyperthyroidism or hyperparathyroidism, and visual problems.
Causes
Fibrous dysplasia and McCune-Albright syndrome are caused by genetic mutations, specifically a mutation in the GNAS gene. This gene plays a crucial role in regulating bone growth and development. The mutation is not inherited, but rather occurs spontaneously during early embryonic development.
Inheritance/recurrence risk
Fibrous Dysplasia and McCune-Albright Syndrome are not inherited. The mutations responsible for these conditions occur randomly during the early development of an individual. Therefore, there is no risk of the condition being passed down to children.
