The condition stems from a in the GNAS gene . This mutation is not inherited from parents but occurs spontaneously during early embryonic development.
Affects multiple bones. This form typically presents earlier in childhood and is more severe.
Because the mutation happens after fertilization, only some cells carry it. This results in a patchy, variable distribution of the disease across the body. Clinical Classification fibrous dysplasia of bone
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 is categorized by how many bones it affects: The condition stems from a in the GNAS gene
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
Symptoms vary widely based on the location and extent of the lesions: Fibrous Dysplasia - StatPearls - NCBI Bookshelf This form typically presents earlier in childhood and
The mutation leads to continuous activation of the Gsα protein, increasing cAMP levels.