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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 […]

The Hip in Skeletal Dysplasia: Evaluation & Management

Volume 11 | Issue 1 | Januar-April 2025 | Page: 34-43 | Gaurav Gupta, Easwar T R, Hitesh Shah, Mohan V Belthur DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.220 Open Access License: CC BY-NC 4.0 Copyright Statement: Copyright © 2025; The Author(s). Submitted: 13/01/2025; Reviewed: 08/02/2025; Accepted: 15/03/2025; Published: 10/04/2025 Authors: Gaurav Gupta MS Ortho [1], Easwar T R MS […]

Skeletal Dysplasia: Introduction, Definition & Classification

The Hip in Skeletal Dysplasia: Evaluation & Management

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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

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

References

1. Birchler JA. Mendel, mechanism, models, marketing, and more. Cell. 2015 Sep 24;163(1):9-11.
2. Stern C. Mendel and human genetics. Proceedings of the American Philosophical Society. 1965 Aug 18;109(4):216-26.
3. Falk R. Genetic analysis: A history of genetic thinking. Cambridge University Press; 2009 May 14.
4. A Nomenclature for Constitutional (Intrinsic) Diseases of Bones. (1971). The Journal of Pediatrics, 78, 177–179.
5. Mortier GR, Cohn DH, Cormier‐Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D. Nosology and classification of genetic skeletal disorders: 2019 revision. American journal of medical genetics Part A. 2019 Dec;179(12):2393-419.
6. Unger, S., Ferreira, C. R., Mortier, G. R., et al. (2007). Skeletal dysplasias: A overview. Endocrine Development, 11, 24–32.
7. Warman, M. L., Cormier-Daire, V., Hall, C., et al. (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics Part A, 155(5), 943–968.
8. Superti-Furga, A., Bonafé, L., & Rimoin, D. L. (2001). Molecular-pathogenetic classification of genetic disorders of the skeleton. American Journal of Medical Genetics, 106(4), 282–293.
9. Groza T, Hunter J, Zankl A. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. BMC bioinformatics. 2012 Dec;13:1-3.
10. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD. A dyadic approach to the delineation of diagnostic entities in clinical genomics. The American Journal of Human Genetics. 2021 Jan 7;108(1):8-15.
11. Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier‐Daire V, Girisha KM, Hall C, Krakow D. Nosology of genetic skeletal disorders: 2023 revision. American Journal of Medical Genetics Part A. 2023 May;191(5):1164-209.
12. Fratzl-Zelman N, Misof BM, Roschger P, Klaushofer K. Klassifikation der Osteogenesis imperfecta. Wiener Medizinische Wochenschrift. 2015 Jul;165:264-70.
13. Greally MT. Shprintzen-Goldberg Syndrome. PMID: 20301454

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 .

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The Hip in Skeletal Dysplasia: Evaluation & Management

Volume 11 | Issue 1 | Januar-April 2025 | Page: 34-43 | Gaurav Gupta, Easwar T R, Hitesh Shah, Mohan V Belthur

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.220

Open Access License: CC BY-NC 4.0

Submitted: 13/01/2025; Reviewed: 08/02/2025; Accepted: 15/03/2025; Published: 10/04/2025

Authors: Gaurav Gupta MS Ortho [1], Easwar T R MS Ortho [2], Hitesh Shah MS Ortho [3], Mohan V Belthur MS Ortho, FRCS (Tr & Orth), FRCSC [4, 5]

[1] Department of Orthopaedics, Child Ortho Clinic, Delhi-NCR, India.
[2] Department of Orthopaedics, Baby Memorial Hospital, Kozhikode, Kerala, India.
[3] Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.
[4] Department of Orthopaedics, Phoenix Children’s Hospital, Phoenix, Arizona, USA.
[5] Department of Child Health & Orthopaedics, University of Arizona College of Medicine – Phoenix.

Address of Correspondence

Dr Mohan Belthur,
Department of Child Health & Orthopaedics, University of Arizona College of Medicine – Phoenix.
Director, Paediatric Limb Reconstruction Services
Co-Director, Neuroorthopaedic Services
Co-Director, Bubba Watson & Ping Motion Analysis Laboratory
Department of Orthopaedics, Phoenix Children’s Hospital, Phoenix, Arizona, USA.

Abstract

Skeletal dysplasias represent a heterogeneous group of over 500 genetic disorders affecting the growth, development, and structural integrity of bone and cartilage. Hip deformities in skeletal dysplasia (S.D) represent a significant challenge in pediatric orthopaedic practice. They significantly impact mobility and quality of life in children with S.D. Despite advances in surgical techniques and implant technology, patients with skeletal dysplasia continue to face higher complication rates and more challenging management decisions.
Early identification and intervention can prevent progressive deformity and secondary complications. A multidisciplinary approach combining careful preoperative planning, specialised surgical techniques, and dedicated rehabilitation protocols offers the best opportunity to optimise outcome.
Keywords: Skeletal Dysplasia, Hip deformities, Natural History, Management, Outcomes.

References

1. Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. A primer on skeletal dysplasias. Jpn J Radiol. 2022 Mar;40(3):245-261. doi: 10.1007/s11604-021-01206-5. Epub 2021 Oct 25. PMID: 34693503; PMCID: PMC8891206.
2. Osagie L, Figgie M, Bostrom M. Custom total hip arthroplasty in skeletal dysplasia. Int Orthop. 2012 Mar;36(3):527-31. doi: 10.1007/s00264-011-1314-7. Epub 2011 Jul 13. PMID: 21751022; PMCID: PMC3291760.
3. Wyles CC, Panos JA, Houdek MT, Trousdale RT, Berry DJ, Taunton MJ. Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases. J Arthroplasty. 2019 Mar;34(3):517-521. doi: 10.1016/j.arth.2018.10.028. Epub 2018 Oct 30. PMID: 30528131; PMCID: PMC6786491.
4. Pauli RM, Modaff P, Sipes SL, Whitelock I. (2019). Tailoring care for individuals with skeletal dysplasia: A practice guide. Am J Med Genet C Semin Med Genet, 181(4):545-559.
5. Trotter TL, Hall JG. (2020). Health supervision for children with achondroplasia. Pediatrics, 145(6).
6. Kadakia RJ, Haddad FS, Appleton P, et al. (2019). Hip disease in spondyloepiphyseal dysplasia: A long-term follow-up study. J Bone Joint Surg Br, 101-B(6):732-739.
7. Anthony S, Munk R, Skakun W, Masini M. (2015). Multiple epiphyseal dysplasia: A retrospective review of clinical and radiographic features at presentation. J Pediatr Orthop, 35(2):172-179.
8. Bonafe L, Cormier-Daire V, Hall C, et al. (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A, 167A(12):2869-2892.
9. Mathew CJ, Ho-Yan B, Clevidence BA, et al. (2014). Hip pathology in pseudoachondroplasia. J Pediatr Orthop, 34(5):519-523.
10. Mortier GR, Cohn DH, Cormier-Daire V, et al. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A, 179(12):2393-2419.
11. Li D, Hu C, Wu Z, et al. (2017). The clinical and radiological outcomes of hip reconstruction in young patients with multiple epiphyseal dysplasia. J Orthop Surg Res, 12(1):123.
12. Wada A, Fujii T, Takamura K, et al. (2018). 3D assessment of hip deformities in skeletal dysplasia using CT imaging. J Pediatr Orthop, 38(9).
13. Zhang H, Yang R, Wang Y, et al. (2021). A comparative study of whole-exome sequencing and targeted panel sequencing in 312 patients with suspected skeletal dysplasia. Mol Genet Genomic Med, 9(1).
14. Moreno-De Luca A, Levin DE, Ortiz-Mantilla S, et al. (2018). Rehabilitation strategies in skeletal dysplasia: A systematic review. Arch Phys Med Rehabil, 99(6):1164-1176.
15. Gül D, Orsçelik A, Akpancar S. Treatment of Osteoarthritis Secondary to Developmental Dysplasia of the Hip with Prolotherapy Injection versus a Supervised Progressive Exercise Control. Med Sci Monit. 2020 Feb 11;26:e919166. doi: 10.12659/MSM.919166. PMID: 32045406; PMCID: PMC7034518.
16. Li Y, Zhou Y, Wang Z, et al. (2020). 3D printed patient-specific instrumentation techniques for complex hip deformity in skeletal dysplasia. J Orthop Surg, 15(1):93.
17. White KK, Bompadre V, Goldberg MJ, et al. (2017). Best practices in perioperative management of patients with skeletal dysplasias. Am J Med Genet A, 173(10):2584-2595.
18. Kanazawa K, Yonetani Y, Nakagawa Y, et al. (2019). Long-term outcome of hip reconstruction in skeletal dysplasia: A minimum 15-year follow-up study. J Pediatr Orthop, 39(9).
19. Laville J.M., Lakermance P., Limouzy F. Larsen’s syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop. 1994;14:63–19. doi: 10.1097/01241398-199401000-00014. [DOI] [PubMed] [Google Scholar][Ref list]
20. Kishta W, Abduljabbar FH, Gdalevitch M, Rauch F, Hamdy R, Fassier F. Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. J Pediatr Orthop. 2017 Oct/Nov;37(7):479-483. doi: 10.1097/BPO.0000000000000644. PMID: 26371943; PMCID: PMC5592982.
21. Härkönen H, Loid P, Mäkitie O (2021) SLC26A2-associated diastrophic dysplasia and rMED—clinical features in affected finnish children and review of the literature. Genes 12:714. https://doi.org/10.3390/genes12050714
22. Shapiro F. Review of specific skeletal dysplasias. Pediatric ortho paedic deformities. Academic Press; 2001. p. 733–870.
23. Thacker MM, Ditro C, Mackenzie WS, Mackenzie WG, White KK. Limb lengthening and deformity correction in patients with skeletal dysplasias. InPediatric Lower Limb Deformities: Principles and Techniques of Management 2024 Aug 24 (pp. 537-559). Cham: Springer International Publishing.
24. Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG. Valgus hip osteotomy in children with spondyloepiphyseal dysplasia congenita: midterm results. Journal of Pediatric Orthopaedics. 2019 Jul 1;39(6):282-8.
25. Treble NJ, Jensen FO, Bankier A, Rogers JG, Cole WG. Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis. J Bone Joint Surg Br. 1990;72(6):1061–4.
26. Vaara P, Peltonen J, Poussa M, Merikanto J, Nurminen M, Kaitila I, et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br. 1998;80(2):315–20.
27. Bisht RU, Van Tassel DC, Belthur MV. Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning. Clinical imaging. 2022 Jun 1;86:94-7.

How to Cite this Article: Gupta G, TR Easwar, Shah H, Belthur MV | The Hip in Skeletal Dysplasia: Evaluation & Management | International Journal of Paediatric Orthopaedics | January-April 2025; 11(1): 34-43.

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