rahitism

Rahitism is a rare genetic disorder characterized by abnormal bone development, particularly affecting the long bones of the limbs. The condition is caused by mutations in the *RARH* gene, which encodes a retinoic acid receptor involved in regulating bone growth and differentiation. Symptoms typically manifest during childhood and include shortened limbs, bowed legs, and abnormal curvature of the spine, often resembling features seen in other skeletal dysplasias.

The disorder is classified as an autosomal recessive condition, meaning an individual must inherit two mutated copies of the *RARH* gene—one from each parent—to develop the disorder. Parents who carry a single mutated copy are considered carriers but generally do not exhibit symptoms. Rahitism is distinct from rickets, a vitamin D deficiency disorder that also affects bone development, though both conditions can present with similar skeletal abnormalities.

Diagnosis often involves radiographic imaging to assess bone structure, genetic testing to confirm the presence of *RARH* mutations, and clinical evaluation of growth patterns. Treatment focuses on managing symptoms, as there is no known cure for the genetic mutation itself. Physical therapy and orthopedic interventions, such as braces or surgical corrections, may be used to address skeletal deformities. Growth hormone therapy has been explored in some cases but is not universally effective.

The prognosis varies depending on the severity of bone deformities and associated complications. While rahitism does not typically affect life expectancy, individuals may experience mobility challenges or musculoskeletal pain. Research into potential therapeutic interventions remains limited, and awareness of the condition is relatively low compared to more common skeletal disorders. Further genetic and clinical studies are needed to improve understanding and treatment options.