Skeletal dysplasias are a heterogeneous group of disorders in which there is abnormal cartilage and bone formation, growth, and remodeling. There are more than 200 described skeletal dysplasias. Skeletal dysplasias can affect the spine in various ways, with attendant neurosurgical implications for diagnosis and treatment. Craniocervical junction abnormalities, atlantoaxial subluxation, and kyphoscoliotic deformity are among the common spinal problems that are found in certain skeletal dysplasias.