Bone Dysplasias

Jurgen W. Spranger, M.D., is Professor Emeritus of Pediatrics, Children's Hospital, University of Mainz, Mainz, Germany and Senior Genetics Scholar, Greenwood Genetic Center, Greenwood, SC. Paula Brill, M.D., is Professor of Radiology, Cornell University Medical College, New York, NY. Andrea Superti-Furga, M.D., Professor of Pediatrics, University of Freiburg, Freiburg, Germany. Sheila Unger, M.D., is Geneticist, Department of Human Genetics, University of Freiburg, Freiburg, Germany. Gen Nishimura, M.D., is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center.

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 1 ; 23.2 Atelosteogenesis type 3 ; 23.3 Larsen syndrome ; 23.4 Spondylo-carpo-tarsal Syndrome ; Section V Spondylo-Epiphyseal Dysplasias ; 24. Type 2 Collagen Group ; 24.1 Achondrogenesis type 2 ; 24.2 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 ; 24.10 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 ; 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 A1 ; 72.2 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 ; 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 1 ; 91. Microcephalic Osteodysplastic Primordial Dwarfism, type 2 ; 92. 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 ; 119.1 Osteogenesis imperfecta type 1 ; 119.2 Osteogenesis imperfecta type 2A ; 119.3 Osteogenesis imperfecta type 2C ; 119.4 Osteogenesis imperfecta type 2B/III ; 119.5 Osteogenesis imperfecta type 4 ; 120. 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 ; 132.1 Mucopolysaccharidosis I-H ; 132.2 Mucopolysaccharidosis I-H Variants ; 132.3 Mucopolysaccharidosis II ; 132.4 Mucopolysaccharidosis III ; 132.5 Mucopolysaccharidosis IV ; 132.6 Mucopolysaccharidosis VI ; 132.7 Mucopolysaccharidosis VII ; 133. Muclipidoses ; 133.1 Mucolipidosis II ; 133.2 Mucolipidosis III ; 134. Oligosaccharidoses ; 135.1 GM1 Gangliosidosis, infantile ; 134.2 GM1 Gangoiosidosis, adult ; 134.3 Sialidosis/Gangliosialidosis ; 134.4 Mannosidosis ; 134.5. Fucosidosis ; 134.6 Aspartylglucosaminuria ; 134.7 Sialic Acid Storage Disease ; 134.8 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 ; 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