Achondroplasia (Gr. A - Negative Prefix, Choidros - Cartilage, Plassein - Form)

Achondroplasia is a genetic disorder that is the most common form of dwarfism in humans. This is a hereditary disorder of the growth and maturation of bone tissue, which leads to the formation of a characteristic type of dwarfism.

The name "achondroplasia" comes from the Greek words "a-" (negative prefix), "choidros" (cartilage) and "plassein" (to form). This reflects the main cause of the disease - a violation of the formation of cartilage tissue, which is a precursor to bone tissue.

Achondroplasia is inherited according to the principle of dominant inheritance, which means that the risk of the disease in the offspring increases if one of the parents is a carrier of the gene mutation responsible for the development of the disease.

Symptoms of achondroplasia include short limbs, especially the upper limbs, and a small torso and head size. People with achondroplasia may also have curled legs, an increased risk of developing spinal and joint problems, and delays in motor and cognitive development.

Treatment of achondroplasia is aimed at symptomatic support and improving the patient’s quality of life. Surgery can help correct some physical deformities, such as crooked legs, and improve breathing and sleep function. Growth therapy, such as growth hormone, may also be used to improve growth and bone development in children with achondroplasia.

In conclusion, achondroplasia is an inherited disorder that results in a characteristic type of dwarfism. Treatment is aimed at improving the patient’s quality of life, as well as preventing possible complications. Early detection and diagnosis of the disease can help improve the prognosis and quality of life for patients with achondroplasia.