Definition: Achondroplasia, also called achondromia or dwarfism, is a genetic disorder affecting the growth of bones in the adult body. The term 'achondroplasia' comes from the Greek words 'achoron', meaning "bone" and 'deplasia' meaning "disfigurement," due to the elongation of the bone and soft tissue in the adult skeleton. Achondroplasia is a rare genetic disorder that affects the growth of the bones, particularly in adults. It is characterized by an abnormal development of the long bones, with the hands being longer than the feet and the shoulders larger than the elbows. The disease typically begins in childhood or adolescence and can affect any part of the body, including the spine, hip, knees, ankles, wrists, elbows, and fingers. The exact cause of achondroplasia is not fully understood, but it has been linked to an inherited genetic condition called Tay-Sachs disease. Several genes associated with achondroplasia have been identified, including the MTHFR1 gene, which codes for a gene that regulates the synthesis of a substance in the liver that helps break down acetylcholine. Achondroplasia can have serious health implications and may contribute to certain forms of cancer. It is currently considered a rare genetic disorder with no cure and requires medical treatment to maintain quality of life and prevent complications such as amputation, limb deformities, and loss of function in the affected limbs. Understanding achondroplasia is important for early detection and management, as it can lead to delayed diagnosis or worse outcomes if left untreated. Early intervention and a personalized approach to care are critical in managing this condition.

achondroplastic