Achondroplasia is a genetic disorder characterized by abnormal bone growth, resulting in dwarfism. It is the most common form of short-limbed dwarfism, affecting approximately 1 in every 15,000 to 40,000 births worldwide. This condition is caused by a mutation in the FGFR3 gene, which is responsible for regulating bone growth.
Synonyms for achondroplasia:
Achondroplasia is typically diagnosed shortly after birth based on physical characteristics and confirmed through genetic testing. Individuals with achondroplasia may experience various health issues, including spinal stenosis, recurrent ear infections, and obesity. However, with appropriate medical care and support, individuals with achondroplasia can lead fulfilling lives.
It is important to note that achondroplasia is a genetic condition and not a disease. People with achondroplasia are not sick or disabled; they simply have a different physical appearance. It is crucial to promote inclusivity and understanding to ensure individuals with achondroplasia are treated with respect and dignity.