Firth's Syndrome

Firth's syndrome, also known as Firth's disease, is a rare inherited condition characterized by abnormal tissue development, particularly affecting skin, bones, and connective tissues. It often presents with distinctive facial features, joint stiffness, and growth delays. The syndrome results from genetic mutations that disrupt normal cellular functions involved in tissue formation. While the exact severity varies, affected individuals may experience challenges with mobility and appearance. Diagnosis typically involves clinical evaluation and genetic testing. Currently, there is no cure, so treatment focuses on managing symptoms and improving quality of life through supportive therapies.