The mutation leads to continuous activation of the Gsα protein, increasing cAMP levels.
Fibrous dysplasia (FD) is a rare, non-inherited bone disorder where normal bone marrow is replaced by abnormal, fibrous connective tissue. This makes the affected bones weak, prone to fractures, and susceptible to deformities. Pathophysiology and Genetics fibrous dysplasia of bone
Symptoms vary widely based on the location and extent of the lesions: Fibrous Dysplasia - StatPearls - NCBI Bookshelf The mutation leads to continuous activation of the
A triad of polyostotic FD, café-au-lait skin spots (often with jagged "Coast of Maine" borders), and hyperfunctioning endocrine issues like precocious puberty. Symptoms and Complications prone to fractures
Affects multiple bones. This form typically presents earlier in childhood and is more severe.