Congenital Deformities of the Appendicular and Axial Skeleton

Congenital deformities of the appendicular and axial skeleton are rare diseases. Some diseases mainly affect the skeleton (such as achondroplasia), while others (such as Marfan’s syndrome) have impact on both the skeleton and internal organs. Congenital deformities can result from generalized skeletal dysplasia as in achondroplasia leading to shortening of all limbs, while others affect the whole skeleton like osteogenesis imperfecta. Congenital deformities can also be a result of non-generalized limb abnormalities such as clubfoot, polydactyly, congenital fibular hemimelia, or congenital pseudarthrosis of the tibia leading to mainly one-sided limb deformity. In many of the conditions, the etiology is unknown, but in some conditions, the etiology is known to be multifactorial or inherited or due to maternal exposure of toxic chemicals during pregnancy. The diagnosis is made from a thorough clinical examination. Some diagnoses are supplemented by ultrasound (as in developmental dysplasia of the hip in the newborn) or supplemented by standard X-rays of affected skeletal sites. Some deformities can be diagnosed from prenatal ultrasound, and inherited diseases are backed by detailed family history and laboratory testing for genetic disease. In syndromes, MRI or ultrasound may be warranted to detect pathologies in internal organs or in the central nerve system.