Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia

Abstract

Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb joint deformity and other problems, thus making patients encounter a variety of treatment and rehabilitation issues throughout their life, with greatly impaired quality of life. However, the clinical treatment and care pathways of achondroplasia are still not completely unified. To facilitate the standardization of clinical treatment of achondroplasia, the International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia was developed by a group of international experts. We interpreted the key points of the consensus, mainly involving lifelong care and multidisciplinary clinical management, aiming to promote the standardization of care for individuals with achondroplasia in order to improve their clinical outcomes and quality of life as well as reduce their mortality.

Keywords

• achondroplasia|diagnosis|management|lifelong care|consensus