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Skeletal dysplasias are genetic disorders that affect bone and cartilage development.

Skeletal dysplasias are a class of rare genetic illnesses that disrupt bone and cartilage growth, resulting in abnormalities in skeletal structure and development. These diseases can affect height, limb proportions, and bone integrity. They happen because of problems with genes that stop the body from making normal cartilage and bones. These problems often involve proteins like collagen or growth factors that are needed for bone growth.

One of the most well-known types of skeletal dysplasia is achondroplasia, which is the leading cause of disproportionate dwarfism. It results from a mutation in the FGFR3 gene, which causes stunted bone growth, short limbs, and a high forehead. Other types include osteogenesis imperfecta, characterised by brittle bones prone to fractures, and thanatophoric dysplasia, typically fatal in infancy.

Symptoms vary per condition, but frequent ones include low stature, joint abnormalities, scoliosis, and abnormal skull development. Diagnostic methods commonly involve genetic testing, X-rays, and clinical evaluations. While there is no cure, treatment for complications includes orthopaedic operations, growth hormone medication, and physical therapy.

Early diagnosis and comprehensive care can enhance the quality of life for those with skeletal dysplasias, allowing them to live productive lives despite physical limitations.