Bone Dysplasias

I. Lethal Osteochondrodysplasias
1. Thanatophoric Dysplasia
2. Achondrogenesis IA
3. Achondrogenesis IB
4. Achondrogenesis II
5. Hypochondrogenesis
6. Short rib (-polydactyly) Syndrome, Saldino-Noonan and
Verma-Naumoff types
7. Short rib (-polydactyly) Syndrome, Majewski type
8. Short rib (-polydactyly) Syndrome, Beemer-Langer type
9. Lethal metatropic dysplasia
10. Fibrochondrogenesis
11. Schneckenbecken dysplasia
12. Blomstrand chondrodysplasia
13. Platyspondylic chondrodysplasia, Torrence type
14. Lethal platyspondylic chondrodysplasia, Sedghatian
type
15. Dyssegmental dysplasia, Silverman-Handmaker type
16. Dyssegmental dysplasia, Rolland-Desbuquois type
17. Campomelic dysplasia
18. Gracile bone dysplasia with flared metaphyses and
cranial deformity
19. Boomerang dysplasia
20. Atelosteogenesis I
21. Atelosteogenesis II
22. Atelosteogenesis III
II. Chondrodysplasia Punctata Group
23. Greenberg Dysplasia
24. Dappled Diaphysis Dysplasia
25. Chondrodysplasia punctata, rhizomelic type
26. Chondrodysplasia punctata, Conradi-Hunermann type
27. Chondrodysplasia punctata, tibia-metacarpal type
28. Chondrodysplasia punctata, brachytelephalangic type
III. Skeletal Dysplasias with Predominant Metaphyseal
Involvement
29. Achondrodysplasia
30. Hypochondrodysplasia
31. Metaphyseal dysplasia, Jansen type
32. Metaphyseal dysplasia, Schmid type
33. Cartilage-Hair-Hypoplasia
34. Shwachman syndrome
35. Omenn Syndrome with metaphyseal chondrodysplasia
36. Metaphyseal Anadysplasia
37. Hypophosphatasia
38. Asphyxiating thoracic dysplasia
39. Ellis-van Creveld syndrome
40. Cranioectodermal dysplasia
IV. Skeletal Dysplasias with Predominant Epiphyseal
Involvement
41. Multiple epiphyseal dysplasia
42. Pseudoachondroplasia
V. Skeletal Dysplasias with Major Involvement of the
Spine
43. Kniest dysplasia
44. Spondyloepiphyseal dysplasia congenita
45. Autosomal dominant spondylarthopathy
46. Stickler Arthroophthalmopathy
47. Otospondylometepiphyseal dysplasia
48. Spondyloepiphyseal dysplasia tarda, X-linked
49. Mselini-Handigodu familial osteoarthropathy
50. Progressive pseudorheumatoid dysplasia
51. Schwartz-Jampel syndrome
52. Metatropic dysplasia
53. Diastrophic dysplasia
54. Opsismodysplasia
55. Anauxetic dysplasia
56. Spondyloepimetaphyseal dysplasia--abnormal
calcification type
57. Dyggve-Melchior-Clausen syndrome
58. Schimke immuno-osseous dysplasia
59. Wolcott-Rallison syndrome
60. Sponastrime dysplasia
61. Spondylometaphyseal dysplasia, Kozlowski type
62. Spondylometaphyseal dysplasia, Sutcliffe type
VI. Skeletal Dysplasias with Multiple Dislocations
63. Larsen syndrome
64. Desbuquois syndrome
65. Spondylo-epi-metaphyseal dysplasia with joint laxity
66. Spondylo-epi-metaphyseal dysplasia with leptodactyly
VII. Dysotosis Multiplex: Complex Carbohydrate Storage
Diseases
67. Mucopolysaccharidosis I-H
68. Mucopolysaccharidosis I variants
69. Mucopolysaccharidosis II
70. Mucopolysaccharidosis III
71. Mucopolysaccharidosis IV
72. Mucopolysaccharidosis VI
73. Mucopolysaccharidosis VII
74. Mucoolipidosis II
75. Mucolipidosis III
76. GM1 Gangliosidosis I, infantile
77. GM1 Gangliosidosis I, adult
78. Sialidosis/Galactosialidosis
79. Mannosidosis
80. Fucosidosis
81. Aspartylglucosaminuria
82. Sialic acid storage disease
VIII. Skeletal Dysplasias with Predominant Involvement
of Single Sites or Segments
A. Spine
83. Brachyolmia, recessive
B. Rhizomelic
84. Omodysplasia
C. Mesomelic
85. Dyschondrosteosis
86. Mesomelic dysplasia, Langer type
87. Mesomelic dysplasia, Kantaputra type
88. Nievergelt syndrome
89. Grebe Dysplasia
90. Acromesomelic Dysplasia, Maroteaux type
91. Robinow syndrome, autosomal recessive
D. Peripheral
92. Brachydactyly A
93. Brachydactyly B
94. Brachydactyly C
95. Brachydactyly D
96. Brachydactyly E
97. Brachydactyly
98. Albright hereditary osteodystrophy
99. Acrodysostosis
100. Tricho-rhino-phalangeal syndrom