Skeletal Dysplasia: Introduction, Definition & Classification
Volume 11 | Issue 1 | Januar-April 2025 | Page: 2-5 | Sukalyan Dey, Kashif Akhtar Ahmed, Mudit Shah, Bansi Khaunte, Abhishek Kayal
DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.212
Open Access License: CC BY-NC 4.0
Copyright Statement: Copyright © 2025; The Author(s).
Submitted: 27/01/2025; Reviewed: 10/02/2025; Accepted: 13/03/2025; Published: 10/04/2025
Authors: Sukalyan Dey MS Ortho [1, 2], Kashif Akhtar Ahmed MS Ortho [3], Mudit Shah MS Ortho [4], Bansi Khaunte MS Ortho [5, 6], Abhishek Kayal MS Ortho [7]
[1] Division of Pediatric Orthopaedics, CORAS Pratiksha Hospital, VIP Road , Borbari, Guwahati, 781036, Assam, India.
[2] Superkidz Pediatric Orthopaedics, Trinitas Medharbor, Paramount Square, VIP Road, Borbari, Guwahati -781036, Assam, India.
[3] Department of Orthopaedics, All India Institute of Medical Sciences, Guwahati, Assam, India.
[4] Consultant, Paediatric Orthopedic Surgeon, Mumbai, Maharashtra, India.
[5] Department of Orthopaedics, South Goa District Hospital, Goa.
[6] Paediatric Orthopaedic Surgery Department, Goa Medical College, North Goa District Hospital, Goa.
[7] Department of Orthopaedics, SRCC Children’s Hospital , Mumbai, Maharashtra, India.
Address of Correspondence
Dr. Sukalyan Dey,
Chief Consultant, Division of Pediatric Orthopaedics, CORAS Pratiksha Hospital, VIP Road , Borbari, Guwahati, 781036, Director, Superkidz Pediatric Orthopaedics, Trinitas Medharbor, Paramount Square, VIP Road, Borbari, Guwahati -781036, Assam, India.
E-mail : sukalyan.gmch@gmail.com
Abstract
Skeletal dysplasias comprise a wide-ranging and intricate category of inherited conditions that interfere with the normal formation, growth, and structural upkeep of bones and cartilage. Historically, their rarity and phenotypic heterogeneity have posed significant diagnostic and classification challenges. This article provides a comprehensive overview of the evolution of skeletal dysplasia nosology, tracing its development from Mendelian principles of inheritance to modern molecular taxonomies.
Early nosological frameworks were primarily clinico-radiological; however, the current paradigm emphasizes molecular and functional classification, reflecting the broader trend toward precision medicine. The International Skeletal Dysplasia Society (ISDS) has played a pivotal role in this shift, with its 2023 Nosology incorporating over 750 distinct disorders grouped by genetic and molecular criteria. The adoption of a dyadic taxonomy—linking gene variants with specific phenotypic descriptors—has enhanced clarity and consistency, besides facilitating better interdisciplinary communication among clinicians, radiologists, and geneticists.
While the nosological framework has considerable utility, it must strike a careful equilibrium between conventional terminology and advancing scientific knowledge. Frequently, it retains historical classifications to ensure continuity in clinical practice and maintain practitioner familiarity. The article also discusses the Bone Dysplasia Ontology as a community-driven alternative to static classifications, promoting dynamic and collaborative knowledge curation.
The purpose of nosology in skeletal dysplasia is not only academic but profoundly clinical: to assist in diagnosis, guide genetic testing, and facilitate research into novel disorders and therapies. While a perfect classification system remains elusive, the trajectory of nosological development mirrors the rapid advancements in genomic medicine and reflects a growing commitment to systematic, inclusive, and adaptive frameworks in the study of skeletal disorders
Keywords: Skeletal Dysplasia, Osteochondrodystrophy, Nosology, Bone Dysplasia Ontology
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| How to Cite this Article: Dey S, Ahmed KA, Shah M, Khaunte B, Kayal A. Skeletal Dysplasia: Introduction, Definition & Classification. International Journal of Paediatric Orthopaedics. January-April 2025; 11(1): 02-05 . |
