Skeletal dysplasias

Abstract

Skeletal dysplasias (SD) are a heterogeneous group of genetic disorders of skeletal growth and development resulting in abnormal shape, size, and texture of skeleton and characterized by short stature. With recent advances in research capabilities in genomics and molecular biology, the genetic basis and molecular mechanisms underlying many of these dysplasias have been elucidated and the classification and nosology have now been expanded to over 400 types. Many of the severe forms of SD do not survive beyond the first week of life. The most common conditions seen in the clinic are achondroplasia and osteogenesis imperfecta, both of which are caused by gene mutations. The diagnosis of SD can often be made prenatally with biometric measurements of the fetus during gestation. After delivery, diagnosis can be made on clinical and radiological features with the aid of biochemical investigations and genetic testing. Upper limb manifestations of SD are also diverse. Commonly seen conditions in the clinic involving upper limbs include osteochondroma (Ollier disease), hereditary multiple exostoses (HME), and fibrous dysplasia. The management of SD requires a multidisciplinary team approach involving a pediatric geneticist, molecular pathologist, radiologist, and pediatric orthopedic surgeon. Genetic counseling plays an important part in the overall management of these disorders. Orthopedic management is mainly directed at treating the manifestations of the disease such as spine and limb deformities and fractures. Current research on treatment by bone marrow transplantation, stem cell therapy, and gene therapy is ongoing.