Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review

Abstract

Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth, causing various spinal issues. The 2023 nosology identifies 771 distinct dysplasias involving 552 genes, with achondroplasia being the most common and significantly affecting the spine. Other disorders include type II collagenopathies, sulphation defects, Filamin B disorders, and osteogenesis imperfecta, presenting with short stature, limb deformities, joint contractures, and spinal abnormalities. Spinal pathology often impacts physeal growth areas, leading to conditions like foramen magnum stenosis, atlantoaxial instability, spinal stenosis, kyphosis, and scoliosis. Non-orthopaedic symptoms can include hearing and vision loss, neurological issues like hydrocephalus, and cardiac abnormalities. The incidence is around 1 in 4000 to 5000 births, with achondroplasia at about 1 in 30000 live births. Advances in genetics and imaging enable prenatal diagnosis, though milder cases may go undetected. Effective management requires a multidisciplinary approach involving various specialists. This review emphasises early diagnosis, continuous monitoring, and comprehensive management of spinal pathology in skeletal dysplasia. In the current article, the authors present a thorough review on spinal conditions associated with skeletal dysplasia, their pathophysiology and management options.

Keywords: Skeletal dysplasia; Spinal disorders; Achondroplasia; Spondyloepiphyseal dysplasia; Mucopolysccharidosis; Osteogenesis imperfecta

Core Tip: Spinal disorders are commonly encountered in patients with skeletal dysplasia. Skeletal dysplasias often impacts physeal growth areas, leading to conditions like foramen magnum stenosis, atlantoaxial instability, spinal stenosis, kyphosis, and scoliosis. The current article provides a detailed review of the various types of skeletal dysplasia and its associated spectrum of spinal disorders, along with common clinical presentation and management options and outcomes as described in literature.