24. Type 2 Collagen Group 24.1 Achondrogenesis type Hypochondrogenesis 24.3 Spondyloepiphyseal Dysplasia, Torrance type 24.

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1 Table of contents Section I Skeletal Dysplasias with Predominant Metaphyseal Involvement 1. FGFR3 Group 1. 1 Thanatophoric Dysplasia 1. 2 Achondroplasia 1. 3 Hypochondroplasia 1. 4 SADDAN 2. Metaphyseal Dysplasia Schmid type 3. Cartilage-hair-Hypoplasia 4. Metaphyseal Dysplasia Spahr type 5. Shwachman-Diamond Syndrome 6. Omenn Syndrome 7. Metaphyseal Anadysplasia 8. Metaphyseal Acroscyphodysplasia 9. Jansen Dysplasia 10. Eiken Dysplasia 11. CINCA Section II Skeletal Dysplasias with Predominant Epiphyseal Involvement 12. Sulfate Transporter Group 12.1 Achondrogenesis type 1B 12.2 De la Chapelle Dysplasia (Atelosteogenesis 2) 12.3 Diastrophic Dysplasia 12.4 Multiple Epiphyseal Dysplasia, autosomal recessive 13. Multiple Epiphyseal Dysplasia, autosomal dominant 14. Pseudoachondroplasia Section III Chondrodysplasia Punctata Group 15. Greenberg Dysplasia 16. Chondrodysplasia punctata, X-linked dominant 17. Congenital hemidysplasia, ichthyosis, limb deficiency (CHILD) 18. Chondrodysplasia punctata, autosomal recessive 19. Chondrodysplasia punctata, X-linked recessive 20. Chondrodysplasia punctate, autosomal dominant type. 21. Chondrodysplasia punctata, tibial-metacarpal type Section IV Skeletal Dysplasias with Prominent Diaphyseal Involvement 22. Filamin A Group 22.1 Oto-palato-digital Syndrome I 22.2 Oto-palato-digital Syndrome II 22.3 Osteodysplasty Melnik-Needles 22.4 Frontometaphyseal Dysplasia 23. Filamin B Group 23.1 Atelosteogenesis type Atelosteogenesis type Larsen syndrome 23.4 Spondylo-carpo-tarsal Syndrome Section V Spondylo-Epiphyseal Dysplasias

2 24. Type 2 Collagen Group 24.1 Achondrogenesis type Hypochondrogenesis 24.3 Spondyloepiphyseal Dysplasia, Torrance type 24.4 Spondyloepiphyseal Dysplasia congenita 24.5 Kniest Dysplasia 24.6 Spondyloperipheral Dysplasia 24.7 Spondyloepiphyseal Dysplasia with Metatarsal Shortening 24.8 Spondyloepiphyseal Dysplasia with Premature Onset Arthrosis 24.9 Vitreoretinopathy with phalangeal epiphyseal dysplasia Stickler Dysplasia 25. Type 11 Collagen Group 25.1 Fibrochondrogenesis 25.2 Otospondylometaepiphyseal Dysplasia 26. Perlecan Group 26.1 Dyssegmental Dysplasia Silverman-Handmaker 26.2 Dyssegmental Dysplasia, Rolland-Desbuqois 26.3 Schwartz-Jampel Syndrome 27. Spondyloepiphyseal Dysplasia tarda, X-linked 28. Spondyloepiphyseal Dysplasia tarda, autosomal recessive 29. Spondyloepiphyseal Dysplasia, Kimberley type 30. Spondyloepiphyseal Dysplasia, Wolcott-Rallison type 31. Immunoosseous Dysplasia 32. Progressive Pseudorheumatoid Chondrodysplasia 33. Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Section VI Spondylo-Metaphyseal Dysplasias 34. Spondylometaphyseal Dysplasia, Sedaghatian type 35. Odontochondrodysplasia 36. Spondylometaphyseal Dysplasia, Sutcliffe (corner fracture) type 37. Spondyloenchondrodysplasia 38. Spondylometaphyseal Dysplasia with cone-rod dystrophy 39. Axial Spondylometaphyseal Dysplasia Section VII Spondylo-Epi-Metaphyseal Dysplasias 40. TRPV4 Group 40.1 Metatropic Dysplasia 40.2 Spondylo-epi-metaphyseal Dysplasia, Maroteaux type 40.3 Spondylometaphyseal Dysplasia, Kozlowski type 40.4 Brachyolmia, autosomal dominant 41. Brachyolmia, autosomal recessive 42. Dyggve-Melchior-Clausen Dysplasia 43. Spondylo-epi-metaphyseal Dysplasia, short limb abnormal calcification type 44. SPONASTRIME Dysplasia 45. Spondylo-epi-metaphyseal Dysplasia, leptodactylic type 46. Chondrodysplasia with congenital joint dislocations, CST3 type 47. Desbuquois Dysplasia 48. gpapp Dysplasia 49. Pseudodiastrophic Dysplasia

3 50. Spondylo-epi-metaphyseal Dysplasia with joint laxity Section VIII Severe Spondylodysplastic Dysplasias 51. Achondrogenesis type 1A 52. Schneckenbecken Dysplasia 53. Opsismodysplasia Section IX Short-rib (-Polydactyly) Dysplasias 54. Asphyxiating Thoracic Dysplasia 55. Chondroectodermal Dysplasia 56. Thoracopelvic Dysplasia (Barnes) 57. SRP, Saldino-Noonan-Verma-Naumoff type 58. SRP, Beemer-Langer type 59. SRP, Majewski type 60. Orofaciodigital syndrome IV Mohr-Majewski Section X Rhizomelic/Mesomelic Dysplasias 61. Omodysplasia 62. Robinow Syndrome 63. Dyschondrosteosis 64. Langer Mesomelic Dysplasia 65. Mesomelic Dysplasia, Kantaputra type 66. Werner Mesomelic Dysplasia 67. Mesomelic Dysplasia, Kozlowski-Reardon type 68. Mesomelic Dysplasia, Nievergelt-Savarirayan type 69. Mesomelic Dysplasia with acral synostoses Section XI Acromesomelic Dysplasias 70. Acromesomelic Dysplasia, Maroteaux type 71. Grebe Dysplasia Section XII Acromelic Dysplasias 72. Isolated Brachydactylies 72.1 Brachydactyly A Brachydactyly B 72.3 Brachydactyly C 72.4 Brachydactyly D 72.5 Brachydactyly E 72.6 Brachydactyly, Christian type 73. Trichorhinophalangeal Dysplasia I 74. Trichorhinophalangeal Dysplasia II 75. Acrocapitofemoral Dysplasia 76. Angel-shaped phalangoepiphyseal Dysplasia 77. Albright Osteodystrophy 78. Acrodysostosis 79. Marshall-Smith Syndrome 80. Geleophysic Dysplasia 81. Acromicric Dysplasia 82. Cranioectodermal Dysplasia (Sensenbrenner) 83. Saldino-Mainzer Dysplasia 84. Familial digital arthropathy with brachydactyly Section XIII Bent Bone Dysplasias 85. Campomelic Dysplasia

4 86. Cousin Dysplasia 87. Cumming Dysplasia Section XIV Slender Bone Dysplasias 88. Three-M Syndrome 89. Kenny-Caffey Dysplasia 90. Microcephalic Osteodysplastic Primordial Dwarfism, type Microcephalic Osteodysplastic Primordial Dwarfism, type IMAGE Syndrome 93. Osteocraniosteosis Section XV Dense Bone Dysplasias with Normal Bone Shape 94. Blomstrand Dysplasia 95. Osteopetroses 95.1 Raine Dysplasia 95.2 Osteopetrosis, infantile 95.3 Osteopetrosis, intermediate 95.4 Osteopetrosis, late-onset form 95.5 Osteopetrosis with renal tubular acidosis 96. Dysosteosclerosis 97. Pyknodysostosis 98. Osteomesopyknosis 99. Osteopetrosis, Ectodermal Dysplasia, Immune Defect OLEDAID 100. Osteopoikilosis 101. Melorheostosis 102. Osteopathia striata with cranial sclerosis Section XVI Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects 103. Caffey Infantile Hyperostosis 104. Osteoectasia with hyperphosphatasia 105. Endosteal Hyperostosis, van Buchem type 106. Diaphyseal dysplasia, Camurati Engelmann 107. Diaphyseal Dysplasia with Anemia (Ghosal) 108. Lenz-Majewski Hyperostotic Dysplasia 109. Pachydermoperiostosis 110. Hypertrophic Osteoarthropathy Currarino 111. Diaphyseal Medullar Stenosis with Bone Malignancy 112. Sclerosteo-cerebellar Syndrome 113. Craniodiaphyseal Dysplasia 114. Craniometaphyseal Dysplasia 115. Pyle disease 116. Metaphyseal Dysplasia, Braun-Tinschert type 117. Oculodentoosseous Dysplasia 118. Trichodentoosseous Dysplasia Section XVII Dysplasias with Decreased Bone Density 119. Osteogenesis imperfecta Osteogenesis imperfecta type Osteogenesis imperfecta type 2A Osteogenesis imperfecta type 2C Osteogenesis imperfecta type 2B/III

5 119.5 Osteogenesis imperfecta type Juvenile Idiopathic Osteoporosis 121. Bruck Syndrome 122. Singleton-Merten Syndrome 123. Geroderma osteodysplasticum 124. Weismann-Netter Toxopachyosteosis 125. Calvarial doughnut lesions with bone fragility 126. Cole-Carpenter Dysplasia 127. Spondylo-ocular Dysplasia 128. Gnathodiaphyseal dysplasia Section XVIII Dysplasias with Defective Mineralization 129. Hypophosphatasia 130. Neonatal Hyperparathyroidism 131. Hereditary Rickets Section XIX Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis multiplex) 132. Mucopolysaccharidoses Mucopolysaccharidosis I-H Mucopolysaccharidosis I-H Variants Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucopolysaccharidosis VII 133. Muclipidoses Mucolipidosis II Mucolipidosis III 134. Oligosaccharidoses GM1 Gangliosidosis, infantile GM1 Gangoiosidosis, adult Sialidosis/Gangliosialidosis Mannosidosis Fucosidosis Aspartylglucosaminuria Sialic Acid Storage Disease Multiple Sulfatase Deficiency Section XX Osteolyses 135. Familial Expansile Osteolysis 136. Infantile Systemic Hyalinosis/Juvenile Fibromatosis 137. Mandibuloacral Dysplasia 138. Progeria Huchinson-Gilford 139. Winchester-Torg Syndrome 140. Hajdu-Cheney Syndrome 141. Multicentric Carpo-Tarsal Osteolysis Section XXI. Disorganized Development of Skeletal Components 142 Fibrous Dysplasia 143. Cherubism 144. Progressive Osseous Heteroplasia

6 145. Multiple Cartilaginous Exostoses 146. Osteoglophonic Dysplasia 147. Fibrodysplasia Ossificans Progressiva 148. Dysplasia Epiphysealis Hemimelica 149. Enchondromatosis (Ollier) 150. Cheirospondyloenchondromatosis 151. Genochondromatosis 152. Metachondromatosis Section XXII Cleidocranial Dysplasias 153. Cleidocranial Dysplasia 154. Yunis-Varon Syndrome 155. CDAGS Syndrome Section XXIII Craniosynostosis Syndromes (selected) 156. Apert Syndrome 157. Pfeiffer Syndrome 158. Antley-Bixler Syndrome 159. Saethre-Chotzen Syndrome 160. Baller-Gerold Syndrome 161. Carpenter Syndrome 162. Muenke Syndrome Section XXIV Costovertebral Dysostoses (selected) 163. Spondylocostal Dysostoses 164. Jarcho-Levin Syndrome 165. Cerebro-costo-mandibular Syndrome 166. Ischio-spinal Dysostosis Section XXV Limb A/Hypoplasias (seleced) 167. Roberts Syndrome 168. Ectrodactyly-Ectodermal Dysplasias 169. Femoral Hypoplasia-Unusual Facies Syndrome 170. Femur-Fibula-Ulna Syndrome 171. Nail-Patella Syndrome 172. Ischio-Patellar Dysplasia Section XXVI Acral and other Dysostoses (selected) 173. Keutel Syndrome 174. Catel-Manzke Syndrome 175. Poland Syndrome 176. Greig Cephalopolysyndactyly Syndrome Section XXVII Disorders caused by Defective Joint Formation 178. Multiple Synostosis Syndrome