Tsirikos AI, Jain A, Ahuja K. Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. World J Methodol 2025; 15(4): 102401 [DOI: 10.5662/wjm.v15.i4.102401]
Corresponding Author of This Article
Athanasios I Tsirikos, MD, PhD, Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH91LF, United Kingdom. atsirikos@hotmail.com
Research Domain of This Article
Orthopedics
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Methodol. Dec 20, 2025; 15(4): 102401 Published online Dec 20, 2025. doi: 10.5662/wjm.v15.i4.102401
Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review
Athanasios I Tsirikos, Akash Jain, Kaustubh Ahuja
Athanasios I Tsirikos, Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Edinburgh EH91LF, United Kingdom
Akash Jain, Kaustubh Ahuja, Department of Orthopaedics, All India Institute of Medical Sciences, Rishikesh 249203, Uttarākhand, India
Co-corresponding authors: Athanasios I Tsirikos and Kaustubh Ahuja.
Author contributions: Tsirikos AI performed the literature review; Jain A and Ahuja K contributed to manuscript writing and data analysis; Tsirikos AI, Jain A, and Ahuja K designed the research study; all authors reviewed and approved the final version of the manuscript.
Conflict-of-interest statement: None of the authors have any potential conflict of interest pertaining to the manuscript.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Athanasios I Tsirikos, MD, PhD, Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH91LF, United Kingdom. atsirikos@hotmail.com
Received: October 17, 2024 Revised: March 9, 2025 Accepted: March 13, 2025 Published online: December 20, 2025 Processing time: 292 Days and 4.4 Hours
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.
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.
