CONTENTS SECTION III CHONDRODYSPLASIA PUNCTATA GROUP GREENBERG DYSPLASIA 71

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1 SECTION I SKELETAL DYSPLASIAS WITH PREDOMINANT METAPHYSEAL INVOLVEMENT 1 1. FGFR3 GROUP Thanatophoric Dysplasia Achondroplasia Hypochondroplasia ll 1.4SADDAN METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE CARTILAGE-HAIR HYPOPLASIA METAPHYSEAL DYSPLASIA, SPAHR TYPE SHWACHMAN SYNDROME OMENN SYNDROME WITH METAPHYSEAL Chodnrodysplasia METAPHYSEAL ANADYSPLASIA METAPHYSEAL (ACRO-)SCYPHODYSPLASIA METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE EIKEN DYSPLASIA CINCA 42 SECTION II SKELETAL DYSPLASIAS WITH PREDOMINANT EPIPHYSEAL INVOLVEMENT SULFATE TRANSPORTER GROUP Achondrogenesis, Type IB Atelosteogenesis, Type II Diastrophic Dysplasia Multiple Epiphyseal Dysplasia, Autosomal Recessive Type MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT PSEUDOACHONDROPLASIA 64 SECTION III CHONDRODYSPLASIA PUNCTATA GROUP GREENBERG DYSPLASIA CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT (CONRADI-HÜNERMANN) CONGENITAL HEMIDYSPLASIA, ICHTHYOSIS, LIMB DEFICIENCY (CHILD) CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC TYPE CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC TYPE CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANTTYPE CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE 88 SECTION IV SKELETAL DYSPLASIAS WITH PROMINENT DIAPHYSEAL INVOLVEMENT FILAMINA GROUP Otopalatodigital Syndrome Type I Otopalatodigital Syndrome Type II Melnick-Needles Osteodysplasty Frontometaphyseal Dysplasia Frank-ter Haar Syndrome FILAMIN B GROUP Atelosteogenesis Type I/Boomerang Dysplasia Atelosteogenesis Type III Larsen Syndrome, Autosomal Dominant Spondylocarpotarsal Synostosis Syndrome 123 SECTION V SPONDYLOEPIPHYSEAL DYSPLASIAS TYPE2 COLLAGEN GROUP Achondrogenesis, Type II Hypochondrogenesis Spondyloepiphyseal Dysplasia, Torrance Type Spondyloepiphyseal Dysplasia Congenita 134 xlx

2 24.5 Kniest Dysplasia Spondyloperipheral Dysplasia Spondyloepiphyseal Dysplasia with Metatarsal Shortening Auosomal dominant Spondyloarthropathy Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia Stickler Dysplasia TYPE 11 COLLAGEN GROUP Fibrochondrogenesis Otospondylomegaepiphyseal Dysplasia (OSMED) PERLECAN GROUP Dyssegmental Dysplasia, Silverman-HandmakerType Dyssegmental Dysplasia, Rolland-DesbuqoisType Schwartz-Jampel Syndrome SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-Linked SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, Autosomal Recessive AGGRECAN-ASSOCIATED SKELETAL DYSPLASIAS SPONDYLOEPIPHYSEAL DYSPLASIA, WOLCOTT-R ALLI SO N TYPE SCHIMKEIMMUNOOSSEOUS DYSPLASIA PROGRESSIVE PSEUDORHEUMATOID CHONDRODYSPLASIA SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA Metatropic Dysplasia Spondyloepimetaphyseal Dysplasia, Maroteaux Type Spondylometaphyseal Dysplasia, Kozlowski Type Brachyolmia, Autosomal Dominant BRACHYOLMIA, Autosomal Recessive DYGGVE-MELCHIOR-CLAUSEN DYSPLASIA SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE SPONASTRIME DYSPLASIA SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH LEPTODACTYLY CHONDRODYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CST3 -RELATED DESBUQUOIS SYNDROME CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, gpapp TYPE PSEUDODIASTROPHIC DYSPLASIA SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY 249 SECTION VIII SEVERE SPONDYLODYSPLASTIC DYSPLASIAS ACHONDROGENESIS TYPE 1A SCHNECKENBECKEN DYSPLASIA OPSISMODYSPLASIA 259 SECTION VI SPONDYLOMETAPHYSEAL DYSPLASIAS SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE ODONTOCHONDRODYSPLASIA SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE/CORNER FRACTURE TYPE SPONDYLOENCHONDRODYSPLASIA SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA 202 SECTION IX SHORT-RIB (-POLYDACTYLY) DYSPLASIAS ASPHYXIATING THORACIC DYSPLASIA ELLIS-VAN CREVELD SYNDROME CHONDROECTODERMAL DYSPLASIA THORACOLARYNGOPELVIC DYSPLASIA SHORT RIB (-POLYDACTYLY) SYNDROME SALDINO-NOONAN-VERMA-NAUMOFFTYPE SHORT RIB (-POLYDACTYLY) SYNDROME, BEEMER-LANGER TYPE. SRP, MAJEWSKI TYPE OROFACIODIGITAL SYNDROME TYPE IV (MOHR-MAJEWSKI) 283 SECTION VII SPONDYLOEPIMETAPHYSEAL DYSPLASIAS TRPV4 GROUP 207 SECTION X RHIZOMELIC/MESOMELIC DYSPLASIAS OMODYSPLASIA, AUTOSOMAL RECESSIVE 289 XX

3 62. ROBINOW SYNDROME DYSCHONDROSTEOSIS LANGER MESOMELIC DYSPLASIA MESOMELIC DYSPLASIA, KANTAPUTRATYPE MESOMELIC DYSPLASIA, WERNER TYPE MESOMELIC DYSPLASIA, KOZLOWSKI-REARDON TYPE MESOMELIC DYSPLASIA, NIEVERGELT- SAVARIRAYAN TYPE MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES 312 SECTION XI ACROMESOMELIC DYSPLASIAS COUSIN DYSPLASIA CUMMING DYSPLASIA 383 SECTION XIV SLENDER BONE DYSPLASIAS M SYNDROME KENNY-CAFFEY DYSPLASIA MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE IMAGE SYNDROME OSTEOCRANIOSTEOSIS ACROMESOMELIC DYSPLASIA, MAROTEAUXTYPE GREBE DYSPLASIA 320 SECTION XII ACROMELIC DYSPLASIAS ISOLATED BRACHYDACTYUES BrachydactylyAl Brachydactyly B BrachydactylyC Brachydactyly D Brachydactyly E Brachydactyly, Christian type TRICHORHINOPHALANGEAL DYSPLASIA, TYPE I TRICHORHINOPHALANGEAL DYSPLASIA, TYPE II ACROCAPITOFEMORAL DYSPLASIA ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA ALBRIGHT HEREDITARY OSTEODYSTROPHY ACRODYSOSTOSIS MARSHALL-SMITH SYNDROME GELEOPHYSIC DYSPLASIA ACROMICRIC DYSPLASIA CRANIOECTODERMAL DYSPLASIA SALDINO-MAINZER DYSPLASIA FAMILIAL DIGITAL ARTHROPATHY WITH BRACHYDACTYLY 371 SECTION XIII BENT BONE DYSPLASIAS CAMPOMELIC DYSPLASIA 377 SECTION XV DENSE BONE DYSPLASIAS WITH NORMAL BONE SHAPE BLOMSTRAND CHONDRODYSPLASIA OSTEOPETROSES Raine Dysplasia Osteopetrosis, Infantile Osteopetrosis, Intermediate Osteopetrosis, Late Onset Forms Osteopetrosis with Renal Tubular Acidosis DYSOSTEOSCLEROSIS PYKNODYSOSTOSIS OSTEOMESOPYKNOSIS OSTEOPETROSIS, ECTODERMAL DYSPLASIA, IMMUNE DEFECT OSTEOPOIKILOSIS MELORHEOSTOSIS OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 444 SECTION XVI DENSE BONE DYSPLASIAS WITH META-DIAPHYSEAL MODELING DEFECTS INFANTILE CORTICAL HYPEROSTOSIS OSTEOECTASIA WITH HYPERPHOSPHATASIA ENDOSTEAL HYPEROSTOSIS, VAN BUCHEM TYPE DIAPHYSEAL DYSPLASIA, CAMURATI ENGELMANN DIAPHYSEAL DYSPLASIA WITH ANEMIA (GHOSAL) LENZ-MAJEWSKI HYPEROSTOTIC DYSPLASIA 468 xxl

4 109. PACHYDERMOPERIOSTOSIS CURRARINO HYPERTROPHIC OSTEOARTHROPATHY DIAPHYSEAL MEDULLAR STENOSIS WITH BONE MALIGNANCY SCLEROSTEO-CEREBELLAR SYNDROME CRANIODIAPHYSEAL DYSPLASIA CRANIOMETAPHYSEAL DYSPLASIA PYLE DISEASE METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERTTYPE OCULODENTOOSSEOUS DYSPLASIA TRICHODENTOOSSEOUS DYSPLASIA 501 SECTION XVII DYSPLASIAS WITH DECREASED BONE DENSITY OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type IIA Osteogenesis Imperfecta TypellC Osteogenesis Imperfecta Type lll/iib Osteogenesis Imperfecta Type IV and V JUVENILE IDIOPATHIC OSTEOPOROSIS BRUCK SYNDROME SINGLETON-MERTEN SYNDROME GERODERMA OSTEODYSPLASTICUM WEISMANN-NETTER TOXOPACHYOSTEOSIS CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS SYNDROME COLE-CARPENTER DYSPLASIA SPONDYLOOCULAR DYSPLASIA GNATHODIAPHYSEAL DYSPLASIA 546 SECTION XIX LYSOSOMAL STORAGE DISEASES WITH SKELETAL INVOLVEMENT (DYSOSTOSIS MULTIPLEX) MUCOPOLYSACCHARIDOSES Mucopolysaccharidosis l-h Mucopolysaccharidosis l-h Variants Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucopolysaccharidosis VII MUCOLIPIDOSES Mucolipidosis II Mucolipidosis III OLIGOSACCHARIDOSES GM1 Gangliosidosis, Infantile/Juvenile Type GM1 Gangoiosidosis, Adult Type Sialidosis/Galactosialidosis a-mannosidosis Fucosidosis Aspartylglucosaminuria Sialic Acid Storage Disease Multiple Sulfatase Deficiency 628 SECTION XX OSTEOLYSES FAMILIAL EXPANSILE OSTEOLYSIS INFANTILE SYSTEMIC HYALINOSIS/JUVENILE HYALINE FIBROMATOSIS MANDIBULOACRAL DYSPLASIA PROGERIA WINCHESTER-TORG SYNDROME HAJDU-CHENEYOSTEOLYSIS MULTICENTRIC CARPAL-TARSAL OSTEOLYSIS 651 SECTION XVIII DYSPLASIAS WITH DEFECTIVE MINERALIZATION HYPOPHOSPHATASIA NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM HEREDITARY RICKETS 559 SECTION XXI. DISORGANIZED DEVELOPMENT OF SKELETAL COMPONENTS FIBROUS DYSPLASIA CHERUBISM PROGRESSIVE OSSEOUS H ETEROPLASIA MULTIPLE CARTILAGINOUS EXOSTOSES 667 xxli

5 146. OSTEOGLOPHONIC DYSPLASIA FIBRODYSPLASIA OSSIFICANS PROGRESSIVA DYSPLASIA EPIPHYSEALIS HEMIMELICA JARCHO-LEVIN SYNDROME CEREBROCOSTOMANDIBULAR SYNDROME ISCHIOSPINAL DYSOSTOSIS ENCHONDROMATOSIS (OLLIER DISEASE) METAPHYSEAL CHONDROMATOSIS WITH 2-HYDROXYGLUTARIC ACIDURIA GENOCHONDROMATOSIS METACHONDROMATOSIS 689 SECTION XXII CLEIDOCRANIAL DYSPLASIAS CLEIDOCRANIAL DYSPLASIA YUNIS-VARON SYNDROME CDAGS SYNDROME 700 SECTION XXV LIMB A/HYPOPLASIAS (SELECED) ROBERTS/SC PHOCOMELIA SYNDROME ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME AN D ISOLATED ECTRODACTYLY FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME FEMUR-FIBULA-ULNA SYNDROME NAIL-PATELLA SYNDROME ISCHIOPATELLAR DYSPLASIA 753 SECTION XXIII CRANIO SYNOSTOSIS SYNDROMES (SELECTED) APERTSYNDROME PFEIFFER SYNDROME ANTLEY-BIXLER SYNDROME SAETHRE-CHOTZEN SYNDROME 714 SECTION XXVI ACRAL AND OTHER DYSOSTOSES (SELECTED) KEUTEL SYNDROME CATEL-MANZKE SYNDROME POLAND SYNDROME GREIG CEPHALOPOLYSYNDACTYLY SYNDROME BALLER-GEROLDSYNDROME CARPENTER SYNDROME MUENKE SYNDROME 721 SECTION XXVII DISORDERS CAUSED BY DEFECTIVE JOINT FORMATION MULTIPLE SYNOSTOSIS SYNDROME 769 SECTION XXIV COSTOVERTEBRAL DYSOSTOSES (SELECTED) 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 A: xxiil