The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care

Abstract

An attempt has been made to estimate the number of living people with skeletal dysplasias (osteochondrodysplasias) in Scotland, England and Wales, ascertained through five orthopaedic centres in different parts of Britain. Index patients and their affected relatives were sought and reassessed. Over the 30-year period between 1950 and 1979 inclusive a minimum prevalence was calculated (excluding stillbirths, perinatal deaths, and patients with chromosome anomalies, metabolic bone disease and short stature per se). The results indicate that there were in the community upwards of 10 000 individuals, at various ages over this period, with these largely genetic disorders. A more accurate estimate is of some 6000 of them requiring substantial orthopaedic care, and who were physically handicapped throughout life, about half of them severely so.