SECTION I SKELETAL DYSPLASIAS WITH PREDOMINANT METAPHYSEAL INVOLVEMENT 1 1. FGFR3 GROUP 3 1.1 Thanatophoric Dysplasia 3 1.2 Achondroplasia 6 1.3 Hypochondroplasia ll 1.4SADDAN 15 2. METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE 17 3. CARTILAGE-HAIR HYPOPLASIA 20 4. METAPHYSEAL DYSPLASIA, SPAHR TYPE 23 5. SHWACHMAN SYNDROME 25 6. OMENN SYNDROME WITH METAPHYSEAL Chodnrodysplasia 27 7. METAPHYSEAL ANADYSPLASIA 29 8. METAPHYSEAL (ACRO-)SCYPHODYSPLASIA 33 9. METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE 36 10. EIKEN DYSPLASIA 39 11.CINCA 42 SECTION II SKELETAL DYSPLASIAS WITH PREDOMINANT EPIPHYSEAL INVOLVEMENT 45 12. SULFATE TRANSPORTER GROUP 47 12.1 Achondrogenesis, Type IB 47 12.2 Atelosteogenesis, Type II 49 12.3 Diastrophic Dysplasia 51 12.4 Multiple Epiphyseal Dysplasia, Autosomal Recessive Type 56 13. MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 58 14. PSEUDOACHONDROPLASIA 64 SECTION III CHONDRODYSPLASIA PUNCTATA GROUP 69 15. GREENBERG DYSPLASIA 71 16. CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT (CONRADI-HÜNERMANN) 73 17. CONGENITAL HEMIDYSPLASIA, ICHTHYOSIS, LIMB DEFICIENCY (CHILD) 77 18. CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE 80 19. CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC TYPE 83 20. CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTTYPE 86 21. CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE 88 SECTION IV SKELETAL DYSPLASIAS WITH PROMINENT DIAPHYSEAL INVOLVEMENT 91 22. FILAMINA GROUP 93 22.1 Otopalatodigital Syndrome Type I 94 22.2 Otopalatodigital Syndrome Type II 98 22.3 Melnick-Needles Osteodysplasty 102 22.4 Frontometaphyseal Dysplasia 106 22.5 Frank-ter Haar Syndrome 109 23. FILAMIN B GROUP 112 23.1 Atelosteogenesis Type I/Boomerang Dysplasia 112 23.2 Atelosteogenesis Type III 115 23.3 Larsen Syndrome, Autosomal Dominant 118 23.4 Spondylocarpotarsal Synostosis Syndrome 123 SECTION V SPONDYLOEPIPHYSEAL DYSPLASIAS 125 24. TYPE2 COLLAGEN GROUP 127 24.1 Achondrogenesis, Type II 127 24.2 Hypochondrogenesis 129 24.3 Spondyloepiphyseal Dysplasia, Torrance Type 131 24.4 Spondyloepiphyseal Dysplasia Congenita 134 xlx
24.5 Kniest Dysplasia 139 24.6 Spondyloperipheral Dysplasia 143 24.7 Spondyloepiphyseal Dysplasia with Metatarsal Shortening 145 24.8 Auosomal dominant Spondyloarthropathy 147 24.9 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 149 24.10 Stickler Dysplasia 151 25. TYPE 11 COLLAGEN GROUP 154 25.1 Fibrochondrogenesis 154 25.2 Otospondylomegaepiphyseal Dysplasia (OSMED) 156 26. PERLECAN GROUP 159 26.1 Dyssegmental Dysplasia, Silverman-HandmakerType 159 26.2 Dyssegmental Dysplasia, Rolland-DesbuqoisType 161 26.3 Schwartz-Jampel Syndrome 164 27. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-Linked 167 28. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, Autosomal Recessive 170 29. AGGRECAN-ASSOCIATED SKELETAL DYSPLASIAS 172 30. SPONDYLOEPIPHYSEAL DYSPLASIA, WOLCOTT-R ALLI SO N TYPE 175 31. SCHIMKEIMMUNOOSSEOUS DYSPLASIA 178 32. PROGRESSIVE PSEUDORHEUMATOID CHONDRODYSPLASIA 182 33. SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 185 40.1 Metatropic Dysplasia 207 40.2 Spondyloepimetaphyseal Dysplasia, Maroteaux Type 213 40.3 Spondylometaphyseal Dysplasia, Kozlowski Type 216 40.4 Brachyolmia, Autosomal Dominant 219 41. BRACHYOLMIA, Autosomal Recessive 221 42. DYGGVE-MELCHIOR-CLAUSEN DYSPLASIA 223 43. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE 227 44. SPONASTRIME DYSPLASIA 231 45. SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH LEPTODACTYLY 234 46. CHONDRODYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CST3 -RELATED 237 47. DESBUQUOIS SYNDROME 239 48.CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, gpapp TYPE 243 49. PSEUDODIASTROPHIC DYSPLASIA 246 50. SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY 249 SECTION VIII SEVERE SPONDYLODYSPLASTIC DYSPLASIAS 253 51. ACHONDROGENESIS TYPE 1A 255 52. SCHNECKENBECKEN DYSPLASIA 257 53. OPSISMODYSPLASIA 259 SECTION VI SPONDYLOMETAPHYSEAL DYSPLASIAS 187 34. SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 189 35. ODONTOCHONDRODYSPLASIA 191 36. SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE/CORNER FRACTURE TYPE 193 37. SPONDYLOENCHONDRODYSPLASIA 196 38. SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 199 39. AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA 202 SECTION IX SHORT-RIB (-POLYDACTYLY) DYSPLASIAS 263 54. ASPHYXIATING THORACIC DYSPLASIA 265 55. ELLIS-VAN CREVELD SYNDROME 269 56. CHONDROECTODERMAL DYSPLASIA 273 57. THORACOLARYNGOPELVIC DYSPLASIA 276 58. SHORT RIB (-POLYDACTYLY) SYNDROME SALDINO-NOONAN-VERMA-NAUMOFFTYPE 279 59. SHORT RIB (-POLYDACTYLY) SYNDROME, BEEMER-LANGER TYPE. SRP, MAJEWSKI TYPE 281 60. OROFACIODIGITAL SYNDROME TYPE IV (MOHR-MAJEWSKI) 283 SECTION VII SPONDYLOEPIMETAPHYSEAL DYSPLASIAS 205 40. TRPV4 GROUP 207 SECTION X RHIZOMELIC/MESOMELIC DYSPLASIAS 287 61. OMODYSPLASIA, AUTOSOMAL RECESSIVE 289 XX
62. ROBINOW SYNDROME 292 63. DYSCHONDROSTEOSIS 295 64. LANGER MESOMELIC DYSPLASIA 297 65. MESOMELIC DYSPLASIA, KANTAPUTRATYPE 300 66. MESOMELIC DYSPLASIA, WERNER TYPE 303 67. MESOMELIC DYSPLASIA, KOZLOWSKI-REARDON TYPE 306 68. MESOMELIC DYSPLASIA, NIEVERGELT- SAVARIRAYAN TYPE 308 69. MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES 312 SECTION XI ACROMESOMELIC DYSPLASIAS 315 86. COUSIN DYSPLASIA 381 87. CUMMING DYSPLASIA 383 SECTION XIV SLENDER BONE DYSPLASIAS 385 88. 3M SYNDROME 387 89. KENNY-CAFFEY DYSPLASIA 389 90. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1 392 91. MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 2 395 92. IMAGE SYNDROME 398 93. OSTEOCRANIOSTEOSIS 400 70. ACROMESOMELIC DYSPLASIA, MAROTEAUXTYPE 317 71. GREBE DYSPLASIA 320 SECTION XII ACROMELIC DYSPLASIAS 325 72. ISOLATED BRACHYDACTYUES 327 72.1 BrachydactylyAl 327 72.2 Brachydactyly B 329 72.3 BrachydactylyC 331 72.4 Brachydactyly D 334 72.5 Brachydactyly E 335 72.6 Brachydactyly, Christian type 337 73. TRICHORHINOPHALANGEAL DYSPLASIA, TYPE I 339 74. TRICHORHINOPHALANGEAL DYSPLASIA, TYPE II 342 75. ACROCAPITOFEMORAL DYSPLASIA 344 76. ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA 347 77. ALBRIGHT HEREDITARY OSTEODYSTROPHY 349 78. ACRODYSOSTOSIS 355 79. MARSHALL-SMITH SYNDROME 357 80. GELEOPHYSIC DYSPLASIA 360 81. ACROMICRIC DYSPLASIA 363 82. CRANIOECTODERMAL DYSPLASIA 366 83. SALDINO-MAINZER DYSPLASIA 369 84. FAMILIAL DIGITAL ARTHROPATHY WITH BRACHYDACTYLY 371 SECTION XIII BENT BONE DYSPLASIAS 375 85. CAMPOMELIC DYSPLASIA 377 SECTION XV DENSE BONE DYSPLASIAS WITH NORMAL BONE SHAPE 403 94. BLOMSTRAND CHONDRODYSPLASIA 405 95. OSTEOPETROSES 407 95.1 Raine Dysplasia 409 95.2 Osteopetrosis, Infantile 412 95.3 Osteopetrosis, Intermediate 415 95.4 Osteopetrosis, Late Onset Forms 418 95.5 Osteopetrosis with Renal Tubular Acidosis 422 96. DYSOSTEOSCLEROSIS 426 97. PYKNODYSOSTOSIS 431 98. OSTEOMESOPYKNOSIS 434 99. OSTEOPETROSIS, ECTODERMAL DYSPLASIA, IMMUNE DEFECT 436 100. OSTEOPOIKILOSIS 439 101. MELORHEOSTOSIS 441 102. OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 444 SECTION XVI DENSE BONE DYSPLASIAS WITH META-DIAPHYSEAL MODELING DEFECTS 449 103. INFANTILE CORTICAL HYPEROSTOSIS 451 104. OSTEOECTASIA WITH HYPERPHOSPHATASIA 454 105. ENDOSTEAL HYPEROSTOSIS, VAN BUCHEM TYPE 458 106. DIAPHYSEAL DYSPLASIA, CAMURATI ENGELMANN 461 107. DIAPHYSEAL DYSPLASIA WITH ANEMIA (GHOSAL) 466 108. LENZ-MAJEWSKI HYPEROSTOTIC DYSPLASIA 468 xxl
109. PACHYDERMOPERIOSTOSIS 473 110. CURRARINO HYPERTROPHIC OSTEOARTHROPATHY 477 111. DIAPHYSEAL MEDULLAR STENOSIS WITH BONE MALIGNANCY 480 112. SCLEROSTEO-CEREBELLAR SYNDROME 483 113. CRANIODIAPHYSEAL DYSPLASIA 486 114. CRANIOMETAPHYSEAL DYSPLASIA 489 115. PYLE DISEASE 492 116. METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERTTYPE 495 117. OCULODENTOOSSEOUS DYSPLASIA 497 118. TRICHODENTOOSSEOUS DYSPLASIA 501 SECTION XVII DYSPLASIAS WITH DECREASED BONE DENSITY 503 119. OSTEOGENESIS IMPERFECTA 505 119.1 Osteogenesis Imperfecta Type I 507 119.2 Osteogenesis Imperfecta Type IIA 512 119.3 Osteogenesis Imperfecta TypellC 514 119.4 Osteogenesis Imperfecta Type lll/iib 516 119.5 Osteogenesis Imperfecta Type IV and V 521 120. JUVENILE IDIOPATHIC OSTEOPOROSIS 524 121. BRUCK SYNDROME 527 122. SINGLETON-MERTEN SYNDROME 530 123. GERODERMA OSTEODYSPLASTICUM 533 124. WEISMANN-NETTER TOXOPACHYOSTEOSIS 536 125. CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS SYNDROME 539 126. COLE-CARPENTER DYSPLASIA 541 127. SPONDYLOOCULAR DYSPLASIA 544 128. GNATHODIAPHYSEAL DYSPLASIA 546 SECTION XIX LYSOSOMAL STORAGE DISEASES WITH SKELETAL INVOLVEMENT (DYSOSTOSIS MULTIPLEX) 563 132. MUCOPOLYSACCHARIDOSES 565 132.1 Mucopolysaccharidosis l-h 567 132.2 Mucopolysaccharidosis l-h Variants 571 132.3 Mucopolysaccharidosis II 574 132.4 Mucopolysaccharidosis III 578 132.5 Mucopolysaccharidosis IV 582 132.6 Mucopolysaccharidosis VI 588 132.7 Mucopolysaccharidosis VII 592 133. MUCOLIPIDOSES 595 133.1 Mucolipidosis II 595 133.2 Mucolipidosis III 601 134. OLIGOSACCHARIDOSES 605 134.1 GM1 Gangliosidosis, Infantile/Juvenile Type 605 134.2 GM1 Gangoiosidosis, Adult Type 609 134.3 Sialidosis/Galactosialidosis 611 134.4 a-mannosidosis 615 134.5 Fucosidosis 619 134.6 Aspartylglucosaminuria 622 134.7 Sialic Acid Storage Disease 625 134.8 Multiple Sulfatase Deficiency 628 SECTION XX OSTEOLYSES 631 135. FAMILIAL EXPANSILE OSTEOLYSIS 633 136. INFANTILE SYSTEMIC HYALINOSIS/JUVENILE HYALINE FIBROMATOSIS 635 137. MANDIBULOACRAL DYSPLASIA 638 138. PROGERIA 641 139. WINCHESTER-TORG SYNDROME 644 140. HAJDU-CHENEYOSTEOLYSIS 647 141. MULTICENTRIC CARPAL-TARSAL OSTEOLYSIS 651 SECTION XVIII DYSPLASIAS WITH DEFECTIVE MINERALIZATION 549 129. HYPOPHOSPHATASIA 551 130. NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM 557 131. HEREDITARY RICKETS 559 SECTION XXI. DISORGANIZED DEVELOPMENT OF SKELETAL COMPONENTS 655 142 FIBROUS DYSPLASIA 657 143. CHERUBISM 662 144. PROGRESSIVE OSSEOUS H ETEROPLASIA 664 145. MULTIPLE CARTILAGINOUS EXOSTOSES 667 xxli
146. OSTEOGLOPHONIC DYSPLASIA 671 147. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 675 148. DYSPLASIA EPIPHYSEALIS HEMIMELICA 678 164. JARCHO-LEVIN SYNDROME 727 165. CEREBROCOSTOMANDIBULAR SYNDROME 729 166. ISCHIOSPINAL DYSOSTOSIS 732 149. ENCHONDROMATOSIS (OLLIER DISEASE) 681 150. METAPHYSEAL CHONDROMATOSIS WITH 2-HYDROXYGLUTARIC ACIDURIA 685 151. GENOCHONDROMATOSIS 687 152. METACHONDROMATOSIS 689 SECTION XXII CLEIDOCRANIAL DYSPLASIAS 691 153. CLEIDOCRANIAL DYSPLASIA 693 154. YUNIS-VARON SYNDROME 698 155. CDAGS SYNDROME 700 SECTION XXV LIMB A/HYPOPLASIAS (SELECED) 737 167. ROBERTS/SC PHOCOMELIA SYNDROME 739 168. ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME AN D ISOLATED ECTRODACTYLY 741 169. FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME 745 170. FEMUR-FIBULA-ULNA SYNDROME 748 171. NAIL-PATELLA SYNDROME 751 172. ISCHIOPATELLAR DYSPLASIA 753 SECTION XXIII CRANIO SYNOSTOSIS SYNDROMES (SELECTED) 701 156. APERTSYNDROME 703 157. PFEIFFER SYNDROME 708 158. ANTLEY-BIXLER SYNDROME 710 159. SAETHRE-CHOTZEN SYNDROME 714 SECTION XXVI ACRAL AND OTHER DYSOSTOSES (SELECTED) 757 173. KEUTEL SYNDROME 759 174. CATEL-MANZKE SYNDROME 761 175. POLAND SYNDROME 763 176. GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 765 160. BALLER-GEROLDSYNDROME 716 161. CARPENTER SYNDROME 718 162. MUENKE SYNDROME 721 SECTION XXVII DISORDERS CAUSED BY DEFECTIVE JOINT FORMATION 767 177. MULTIPLE SYNOSTOSIS SYNDROME 769 SECTION XXIV COSTOVERTEBRAL DYSOSTOSES (SELECTED) 723 163. SPONDYLOCOSTAL DYSOSTOSES 725 ADDENDUM NOSOLOGY AND CLASSIFICATION OF SKELETAL DISORDERS* 773 INDEX 797 * Adapted from 'Nosology and Classification of skeletal disorders, : 2010 Revision, by Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Am J Med Genet A. 2011 155A:943-968. xxiil