Bone Dysplasias

Jürgen 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 W. Brill, M.D., is Professor Emerita of Radiology, Weill Cornell Medical College New York, NY, and former Chief of Pediatric Radiology, New York Presbyterian Hospital.

Christine Hall, M.D., is Professor of Pediatric Radiology, University College London and formerly Consultant Pediatric Radiologist, Great Ormond Street Hospital for Children, London, UK. She is currently an Honorary Consultant, St George's, University of London.

Gen Nishimura, M.D., is Visiting Professor at the Center for Intractable Disease, Saitama Medical University Hospital, and former Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center.

Andrea Superti-Furga, M.D., is Professor of Pediatrics and Genetics at the University of Lausanne and Head of the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Sheila Unger, M.D., is Privat-docent at the University of Lausanne, Senior Geneticist at the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland, and formerly Coordinator at the European Skeletal Dysplasia Network.

Foreword
John M. Opitz
Preface
1. Achondroplasia AND Related FGFR3 Conditions
1.1 Thanatophoric Dysplasia, Types 1 and 2 (MIM 187600, 187601)
1.2 ACHONDROPLASIA (MIM 100800)
1.3 Hypochondroplasia (MIM 146000)
1.4 SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) (MIM 616482)
2. PSEUDOACHONDROPLASIA AND DOMINANT EPIPHYSEAL DYSPLASIA
2.1 Pseudoachondroplasia (MIM 177170)
2.2 MULTIPLE EPIPHYSEAL DYSPLASIAS, AUTOSOMAL DOMINANT (MIM 132400, 614135, 600204, 600969, 607078)
3.
3.1 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (MIM 156500)
3.2 Cartilage-Hair Hypoplasia (MIM 250250)
3.3 Metaphyseal Dysplasia, Spahr Type (MIM 250400)
3.4 Metaphyseal Anadysplasia (MIM 602111, 613073)
3.5 SHWACHMAN SYNDROME (MIM 260400)
3.6 Metaphyseal Chondrodysplasia, Jansen Type (MIM 156400)
3.7 EIKEN DYSPLASIA (MIM 600002)
3.8 CINCA (Chronic Infantile Neurologic Cutaneous and Articular Syndrome) (MIM 607115)
4.
4.1 Achondrogenesis II, Hypochondrogenesis (MIM 200610)
4.2 Platyspondylic Dysplasia, Torrance Type (MIM 151210)
4.3 Spondyloepiphyseal Dysplasia Congenita (MIM 183900)
4.4 Spondylo-epi-metaphyseal Dysplasia, Strudwick type (MIM 183900, 184250, 184253)
4.5 KNIEST DYSPLASIA (MIM 156550)
4.6 spondyloepiphyseal Dysplasia, stanescu type (MIM 616538)
4.7 Spondyloperipheral Dysplasia (MIM 271700)
4.8 Spondyloepiphyseal Dysplasia with short metatarsals (MIM 609162)
4.9 Stickler Dysplasia (MIM 108300, 604841)
4.10 Fibrochondrogenesis (MIM 228520)
4.11 Oto-Spondylo-Megaepiphyseal Dysplasia (MIM 184840, 277610, 215150)
5. Mucopolysaccharidoses and Oligosaccharidoses
5.1 Dysostosis multiplex
5.2 Mucopolysaccharidosis IV (MIM 253000, 253010)
5.3 MUCOLIPIDOSIS II (MIM 252500)
5.4 MUCOLIPIDOSIS III (MIM 252600, 252605)
6. Metatropic Dysplasia and Other TRPV4-related Skeletal Dysplasias
6.1 Metatropic Dysplasia (MIM 156530, 168400)
6.2 Spondyloepiphyseal Dysplasia, Maroteaux Type (MIM 184095)
6.3 Spondylometaphyseal Dysplasia, Kozlowski Type (MIM 184252)
6.4 Brachyolmia, autosomal dominant (MIM 113500)
6.5 Familial Digital Arthropathy with Brachydactyly(MIM 606835)
7.
7.1 Achondrogenesis type 1A (MIM 200600)
7.2 ODONTOCHONDRODYSPLASIA (MIM 184260)
7.3 Schneckenbecken Dysplasia (MIM 269250)
7.4 OPSISMODYSPLASIA (MIM 258480)
7.5 Spondylometaphyseal dysplasia - Sedaghatian type. (MIM 250220)
7.6 Spondyloenchondrodysplasia (MIM 607944)
7.7 SEMD, PAPSS2 TYPE; AND BRACHYOLMIA, AUTOSOMAL RECESSIVE TYPE (MIM 271530, 271630)
7.8 Dyggve-Melchior-Clausen Dysplasia (MIM 223800)
7.9 Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type (MIM 271665)
7.10 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (MIM 608940)
7.11 Dyssegmental Dysplasia (MIM 224400, MIM 244110)
7.12 Schwartz-Jampel Syndrome (MIM 255800)
7.13 Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400)
7.14 Aggrecan-Associated Skeletal Dysplasias (MIM 608361, 612813)
7.15 Wolcott-Rallison Syndrome (MIM 226980)
7.16 Schimke Immunoosseous Dysplasia (MIM 242900)
7.17 Progressive Pseudorheumatoid Chondrodysplasia (MIM 208230)
7.18 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (MIM 184255)
7.19 Sponastrime Dysplasia (MIM 271510)
7.20 CODAS SYNDROME (MIM 600373)
7.21 NANS (N-AcetylNeuraminic acid Synthase) DEFICIENCY (OMIM 610442)
7.22 SPONDYLO-EPI-METAPHYSEAL DYSPLASIA WITH IMMUNE DEFICIENCY AND DEVELOPMENTAL DISABILITY, EXTL3-DEFICIENT TYPE
8.
8.1 Achondrogenesis, Type IB (MIM 600972)
8.2 ATELOSTEOGENESIS TYPE 2 (MIM 256050)
8.3 DIASTROPHIC DYSPLASIA (MIM 222600)
8.4 Multiple Epiphyseal Dysplasia, recessive type (rMED)(MIM 226900)
8.5 DESBUQUOIS DYSPLASIA (MIM 251450)
8.6 Chondrodysplasia with Joint Dislocations, IMPAD1/gPAPP type
8.7 Catel-Manzke Syndrome (MIM 616145)
8.8 Chondrodysplasia with congenital joint dislocations, CHST3-type (MIM 143095)
8.9 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (TPBS) (MIM 605282)
8.10 B4GALT7 deficiency (MIM 130070)
8.11 B3GAT3 deficiency (MIM 245600)
8.12 XYLT1 deficiency (MIM 251450)
8.13 Spondyloepimetaphyseal Dysplasia with Joint Laxity BEIGHTON type (MIM 271640)
8.14 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE (MIM 603546)
8.15 Pseudodiastrophic Dysplasia (MIM 264180)
8.16 STEEL SYNDROME (MIM 615155)
9. Filamin-associated Dysplasias/Dysostoses and related disorders
9.1 Otopalatodigital Syndrome Type 1 (MIM 311300)
9.2 Otopalatodigital Syndrome Type II (MIM 304120)
9.3 Melnick-Needles Osteodysplasty(MIM309350)
9.4 Frontometaphyseal Dysplasia (MIM 305620; 617137)
9.5 Boomerang Dysplasia/Atelosteogenesis Type I (MIM 112310, 108720)
9.6 ATELOSTEOGENESIS TYPE III (MIM 108721)
9.7 Larsen Syndrome, Autosomal Dominant (MIM 150250)
9.8 Spondylocarpotarsal Synostosis Syndrome (MIM 272460)
9.9 Frank-ter Haar Syndrome (MIM 249420)
10. PUNCTATE CALCIFICATION GROUP
10.1 Greenberg Dysplasia (MIM 215140)
10.2 CHONDRODYSPLASIA PUNCTATA CONRADI-HÜNERMANN TYPE (MIM 302960)
10.3 CHILD (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) Syndrome (MIM 308050)
10.4 Chondrodysplasia Punctata, Rhizomelic Type (MIM 215100, 222765, 600121)
10.5 Chondrodysplasia Punctata, Brachytelephalangic Type (MIM 302950; 602497)
10.6 Chondrodysplasia Punctata, Autosomal Dominant Type (MIM 118650)
10.7 Chondrodysplasia Punctata, Tibia-Metacarpal Type (MIM 118651)
10.8 KEUTEL SYNDROME (MIM 245150)
11. Short-rib (± polydactyly) dysplasias
11.1 Asphyxiating Thoracic Dysplasia (MIM 208500)
11.2 ELLIS VAN CREVELD SYNDROME (MIM 255500)
11.3 Short Rib (±Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff types (MIM 613091)
11.4 Short Rib (±Polydactyly) Syndrome, Majewski Type (MIM 263520)
11.5 SHORT RIB (±POLYDACTYLY) SYNDROME, BEEMER-LANGER TYPE (MIM 269860)
11.6 Cranioectodermal Dysplasia (MIM 218330)
11.7 Mainzer-Saldino Syndrome (MIM 266920)
11.8 Axial Spondylometaphyseal Dysplasia (MIM 602271)
12. Rhizo-MESOMELIC DYSPLASIAS
12.1 Omodysplasia, Autosomal recessive (MIM 258315, 268250)
12.2 ROBINOW SYNDROME (MIM 180700, 616331, 616894, 268310)
12.3 DYSCHONDROSTEOSIS (MIM 127300)
12.4 MESOMELIC DYSPLASIA, LANGER TYPE (MIM 249700)
12.5 Mesomelic Dysplasia, Kantaputra Type (MIM 156232)
12.6 Mesomelic Dysplasia, Werner type (MIM 188740; 135750)
12.7 Mesomelic Dysplasia, Reardon-Kozlowski type (MIM 249710)
12.8 Mesomelic Dysplasia, Nievergelt-Savarirayan Type (MIM 163400; 605274)
12.9 Mesomelic Dysplasia with Acral Synostoses (MIM 600383)
13. Acromesomelic AND ACROMELIC Dysplasias/DYSOSTOSeS
13.1 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE (MIM 602875)
13.2 GREBE DYSPLASIA (MIM 200700, 201250, 228900)
13.3 BRACHYDACTYLY A1 (MIM 112500)
13.4 Brachydactyly B (MIM 113000)
13.5 BRACHYDACTYLY C (MIM 113100)
13.6 BRACHYDACTYLY D (MIM 113200)
13.7 BRACHYDACTYLY E (MIM 113300, 613380)
13.8 BRACHYDACTYLY, CHRISTIAN TYPE (MIM 112450)
13.9 TRICHO-RHINO-PHALANGEAL DYSPLASIA, TYPE I (MIM 190350)
13.10 TRICHO-RHINO-PHALANGEAL SYNDROME, TYPE II (MIM 150230)
13.11 Acrocapitofemoral Dysplasia (MIM 607778)
13.12 Albright Hereditary Osteodystrophy(MIM 103580, 600430, 612462, 612463 )
13.13 ACRODYSOSTOSIS (MIM 101800, 614613)
13.14 Geleophysic Dysplasia (MIM 231050)
13.15 ACROMICRIC DYSPLASIA (MIM 102370)
13.16 MYHRE SYNDROME (MIM 139210)
13.17 SOFT Syndrome (MIM 614813)
14. Osteogenesis Imperfecta and other Disorders with Decreased Bone Density
14.1 Osteogenesis imperfecta
14.2 Osteogenesis Imperfecta, Type I (MIM 116200)
14.3 Osteogenesis Imperfecta, Type IIA (MIM 166210)
14.4 Osteogenesis Imperfecta, Type IIC
14.5 Osteogenesis Imperfecta, Type III/IIB (MIM 259420)
14.6 Osteogenesis Imperfecta, Type IV (MIM 166220)
14.7 Osteogenesis Imperfecta, Type V (MIM 610967)
14.8 Idiopathic Juvenile Osteoporosis (MIM 259750)
14.9 Bruck Syndrome (MIM 259450; 609220; 610968)
14.10 Cole-Carpenter Syndrome (MIM 112240, 616294)
14.11 STüVE-WIEDEMANN syndrome (MIM 601559)
14.12 osteoporosis-pseudoglioma syndrome (MIM 259770)
14.13 Spondyloocular dysplasia (MIM 605822)
14.14 Geroderma Osteodysplasticum (MIM 231070)
14.15 CALVARIAL DOUGHNUT LESIONS-OSTEOPOROSIS SYNDROME (MIM 126550)
14.16 Gnathodiaphyseal Dysplasia (MIM 166260)
15.
15.1 Hypophosphatasia (MIM 146300, 241500, 251510)
15.2 Neonatal Severe Primary Hyperparathyroidism (MIM 239200)
16. Dense Bone Dysplasias with Normal Bone Shape
16.1 Dense Bone Dysplasias with Normal Bone Shape
16.2 Raine Dysplasia (MIM 259775)
16.3 Infantile Osteopetrosis (MIM 259700, 259710, 259720, 611490)
16.4 Osteopetrosis, Intermediate (MIM 259710, 611497)
16.5 Osteopetrosis, Late Onset Forms (MIM 607634, 166660)
16.6 Osteopetrosis with Renal Tubular Acidosis (MIM 259730)
16.7 DYSOSTEOSCLEROSIS (MIM 224300)
16.8 Pyknodysostosis (MIM 265800)
16.9 OsteomesopYknosis (MIM 166450)
16.10 Osteopetrosis, Lymphedema, Ectodermal Dysplasia, Immune Defect (MIM 300301)
16.11 Osteopoikilosis (MIM 166700)
16.12 Melorheostosis (MIM 155950)
16.13 Osteopathia Striata with Cranial Sclerosis (MIM 300373)
17. Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
17.1 BLOMSTRAND CHONDRODYSPLASIA (MIM 215045)
17.2 Infantile Cortical Hyperostosis (MIM 114000)
17.3 Dysplastic Cortical Hyperostosis type Kozlowski-Tsuruta
17.4 Osteoectasia with Hyperphosphatasia (MIM 239000)
17.5 Endosteal Hyperostosis, van Buchem type (MIM 239100, 269500)
17.6 Camurati-Engelmann Disease (MIM 131300)
17.7 l Hematodiaphyseal Dysplasia (MIM 231095)
17.8 z-Majewski Hyperostotic Dysplasia (MIM 151050)
17.9 Hypertrophic osteoarthropathy, Autosomal Recessive (MIM 259100)
17.10 Pachydermoperiostosis, Autosomal dominant (MIM 167100)
17.11 Sclerosteo-Cerebellar Syndrome (MIM 213002)
17.12 Craniodiaphyseal Dysplasia (MIM 122860, 218300)
17.13 Craniometaphyseal Dysplasia (MIM 123000; 218400)
17.14 Craniometadiaphyseal Dysplasia wormian bone type (MIM 269300)
17.15 Pyle Disease (MIM 265900)
17.16 Metaphyseal Dysplasia, Braun-Tinschert Type (MIM 605946)
17.17 OCULODENTOOSSEOUS DYSPLASIA (MIM 164200)
17.18 Tricho-dento-osseous Dysplasia (MIM 190320)
17.19 Diaphyseal Medullary Stenosis with Bone Malignancy (MIM 112250)
18.
18.1 Familial Expansile Osteolysis (MIM 174810)
18.2 hyaline fibromatosis (MIM 228600)
18.3 Mandibuloacral Dysplasia (MIM 248370; 608612)
18.4 PROGERIA (MIM 176670)
18.5 Winchester-Torg syndrome (MIM 259600)
18.6 Hajdu-Cheney OSTEOLYSIS (MIM 102500)
18.7 Multicentric Carpal-Tarsal Osteolysis (MIM 166300)
19. DISORDERS CAUSED BY DISORGANIZATION OF SKELETAL CONSTITUENTS
19.1 Fibrous dysplasia (MIM 174800)
19.2 Cherubism (MIM 118400)
19.3 Progressive osseous heteroplasia (MIM 166350)
19.4 Multiple Cartilaginous Exostoses (MIM 133700, 133701, 600209)
19.5 Osteoglophonic Dysplasia (MIM 166250)
19.6 Fibrodysplasia Ossificans Progressiva (MIM 135100)
19.7 Dysplasia Epiphysealis Hemimelica (MIM 127800)
19.8 ENCHONDROMATOSIS (MIM 166000)
19.9 METAPHYSEAL CHONDROMATOSIS WITH 2-HYDROXYGLUTARIC ACIDURIA
19.10 Genochondromatosis (MIM 137360)
19.11 Metachondromatosis (MIM 156250)
20.
20.1 CAMPOMELIC DYSPLASIA (MIM 211990, 114290)
20.2 COUSIN DYSPLASIA (MIM 260660)
20.3 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD) (MIM 613330)
20.4 Cleidocranial Dysplasia (MIM 119600)
20.5 Yunis-Varon Syndrome (MIM 216340)
20.6 CDAGS (MIM 603116)
20.7 Nail-Patella Syndrome (MIM 161200)
20.8 Ischio-Pubic-Patellar Dysplasia (MIM 147891)
20.9 Ischiospinal Dysostosis (MIM 608020)
20.10 Cerebro-Costo-Mandibular Syndrome (MIM 117650)
20.11 SAMS SYNDROME (MIM 602471)
21.
21.1 3M Syndrome (MIM 273750, 612921, 614205)
21.2 KENNY-CAFFEY SYNDROME (MIM 127000 (type 2))
21.3 Osteocraniostenosis (MIM 602361)
21.4 Microcephalic Osteodysplastic Primordial Dwarfism, Types 1 and 3 (MIM 210710, 210730)
21.5 Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (MIM 210720)
21.6 IMAGE (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies) Syndrome (MIM 614732)
22. OVERGROWTH / ACCELERATED SKELETAL MATURATION SYNDROMES (SELECTED)
22.1 Marshall-Smith syndrome (MIM 602535)
22.2 Marshall-Smith syndrome (MIM 602535)
22.3 WEAVER SYNDROME (MIM 277590)
22.4 CNP-overexpression Overgrowth Syndrome (MIM 615923)
23. CRANIOSYNOSTOSIS SYNDROMES
23.1 APERT SYNDROME (MIM 101200)
23.2 Pfeiffer Syndrome (MIM 101600, 136350)
23.3 Antley-Bixler Syndrome (MIM 201750)
23.4 Saethre-Chotzen Syndrome (MIM 101400)
23.5 Baller-Gerold Syndrome (MIM 218600, 266280)
23.6 CARPENTER SYNDROME (MIM 201000, 614970)
23.7 MUENKE SYNDROME (MIM 602849)
23.8 BENT BONE DYSPLASIA-FGFR2 TYPE (MIM 614592)
24. Spondylocostal dysostoses (SCD)
25.
25.1 AL-AWADI RAAS-ROTHSCHILD SYNDROME (MIM 276820, 228930)
25.2 Roberts/SC Phocomelia Syndrome (MIM 268300, 269000)
25.3 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (MIM 129900; 604292)
25.4 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY (SHFLD) (MIM 119100, 610685, 612576)
25.5 FemoraL-Facial Syndrome (FFS) (MIM 134780)
25.6 Femur-Fibula-Ulna Syndrome (MIM 228200)
25.7 POLAND SYNDROME (MIM 173800)
25.8 NAGER SYNDROME (MIM 154400, 201170 )
26. DISORDERS WITH DEFECTIVE JOINT FORMATION
26.1 Multiple Synostoses Syndrome (MIM 186500; 186570; 610017; 612961)
26.2 Liebenberg Syndrome (MIM 186550)
Index