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2001-04-12-23 International Nomenclature of Constitutional Disorders of Bone © Wilcox www.thefetus.net/


International Nomenclature of Constitutional Disorders of Bone

1. Achondroplasia group

2. Spondylodysplastic and other perinatally lethal groups

3. Metatropic dysplasia group

4. Short-rib dysplasia (SRP) (with or without polydactyly) group

5. Atelosteogenesis-omodysplasia group

6. Diastrophic dysplasia group

7. Dyssegmental dysplasia group

8. Type II collagenopathies

9. Type XI collagenopathies

10. Other spondyloepi-(meta)-physeal [SE(M)D] dysplasias

11. Multiple epiphyseal dysplasias & pseudoachondroplasia

12. Chondrodysplasia punctata (stippled epiphyses group)

13. Metaphyseal dysplasias

14. Spondylometaphyseal dysplasias (SMD)

15. Brachyolmia spondylodysplasias

16. Mesomelic dysplasias

17. Acromelic and acromesomelic dysplasias

18. Dysplasias with prominent membranous bone involvement

19. Bent-bone dysplasia group

20. Multiple dislocations with dysplasias

21. Dysostosis multiplex group

22. Osteodysplastic slender bone group

23. Dysplasias with decreased bone density

24. Dysplasias with defective mineralization

25. Increased bone density without modification of bone shape

26. Increased bone density with diaphyseal involvement

27. Increased bone density with metaphyseal involvement

28. Neonatal severe osteosclerotic dysplasias

29. Lethal chondrodysplasias with fragmented bones

30. Disorganized development of cartilaginous and fibrous components of the skeleton

31. Osteolyses

32. Patella dysplasias

Download the nomenclature document in Adobe Acrobat PDF format in:


Skeletal Dysplasia Registry at Cedar-Sinai Medical Center


Reproduced by permission of Wilcox, Bill, M.D, Ph.D.
Created 6/1/98 / Last modified 2/19/2000
Skeletal Dysplasia Registry / Cedars-Sinai Medical Center / [email protected]
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