The Skeletal Dysplasia Clinic at St. Louis Children Hospital serves the needs of children with skeletal abnormalities. Although individually rare, the more than 200 known skeletal dysplasia syndromes add to produce a significant number of affected individuals with remarkable morbidity and mortality. Many people with skeletal dysplasia have a variety and complicated medical concerns that require the ongoing coordinated management by specialists in the field. Our aim is to provide diagnosis and management for patients who have rare inherited bone disorders from childhood, through adolescence and into adulthood. The clinic is staffed by a multidisciplinary team that provides multispecialty care for children with rare skeletal disorders including conditions such as achondroplasia and osteogenesis imperfecta. We coordinate the care of our patients utilizing the services of genetics, orthopedic surgery, neurosurgery and radiology at a single clinic visit.
There are diverse manifestations for inherited bone conditions that include short stature, skeletal malformations and deformations, skeletal birth defects and abnormal bone density. The genetic basis of many of these conditions has been delineated over the past few years enabling a precise molecular diagnosis and the opportunity for genetic counseling.