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Rapid Publication International Nosology and Classification of Constitutional Disorders of Bone

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Rapid Publication International Nosology and Classification of Constitutional Disorders of Bone American Journal of Medical Genetics 113:65–77 (2002) Rapid Publication International Nosology and Classification of Constitutional Disorders of Bone (2001) Christine M. Hall* Department of Radiology, Great Ormond Street Children’s Hospital, London, United Kingdom The last International Classification of Con- combination of morphological and molecular groupings stitutional Disorders of Bone was published it is anticipated that two parallel but interacting clas- in 1998. Since then rapid advances have been sifications will evolve: one clinical, identifying accepted made in identifying the molecular changes terminology or nosology, and the other molecular, to responsible for defined conditions and new help further understand the pathogenesis of individual disorders are constantly being delineated. disorders. For these reasons a further update on the The major change in the classification has been the classification is appropriate. It has been addition of genetically determined dysostoses to the expended to not only the osteochondrodys- skeletal dysplasias or osteochondrodysplasias. This is plasias (33 groups) but also genetically deter- because in clinical practice these two groups overlap. mined dysostoses (3 groups). Dysostoses may be defined as skeletal malformations ß 2002 Wiley-Liss, Inc. occurring singly or in combination. The dysostoses are static and their malformations occur during blastogen- KEY WORDS: osteochondrodysplasia; dys- esis (the first eight weeks of embryonic life). This is in ostosis; gene contrast to the skeletal dysplasias which often present after this stage, have a more general skeletal involve- ment and continue to evolve as a result of active gene The International Working Group on the Classifica- involvement throughout life. Only those dysostoses tion of Constitutional Disorders of Bone met in Oxford which have an identified chromosomal locus have been on September 4th and 5th 2001 to update the last clas- included. They have been divided into three groups: sification which had been drawn up in Los Angeles in those with predominant cranial and facial involvement, 1997 (Table I). While this latest classification remains a those with predominant axial involvement, and those with predominant involvement of the extremities. The first group includes in particular the various craniosy- nostoses occurring as a result of FGFR mutations. The second group includes the various vertebral segmenta- This paper was prepared by Dr. Hall on behalf of the tion defect disorders, and the third, the ectrodactylys International Nomenclature Group. Members of the International and Fanconi syndrome groups. The brachydactylys Nomenclature Group: Peter Beighton, Cape Town, South Africa; were included in the 1997 classification in Group 17, Clair Francomano, Bethesda, USA; Andres Giedion, Zurich, the acromelic and acromesomelic dysplasias, and now Switzerland; Christine Hall, London, UK (chair); Judith Hall, remain in the acromelic dysplasia group, although they Vancouver, Canada; William Horton, Portland, USA; Ilkka Kaitila, Helsinki, Finland; Debbie Krakow, Los Angeles USA; could logically move into the dysostosis classification. Ralph Lachman, Los Angeles, USA; Martine Le Merrier, Paris, A few of the more major changes to the skeletal dys- France; Geert Mortier, Gent, Belgium; Stephan Mundlos, Berlin, plasia classification will be identified. Germany; Andrew Poznanski, Chicago, USA; David Rimoin, 1. SADDAN — severe achondroplasia, developmental Los Angeles, USA; Ravi Savarirayan, Australia; David Sillence, delay and acanthosis nigricans has been included in the Sydney, Australia; Jurgen Spranger, Mainz, Germany; Andrea achondroplasia group. Superti-Furga, Zurich, Switzerland; Sheila Unger, Canada; John Washbrook, London, UK; Matt Warman, Cleveland, USA; 2. The severe spondylodysplastic group has deleted William Wilcox, Los Angeles, USA; Robin Winter, London, UK. the San Diego type of lethal platyspondylic dysplasia, *Correspondence to: Dr. Christine M. Hall, Department of which has been identified as the same as thanatopho- Radiology, Great Ormond Street Children’s Hospital, London ric dysplasia type I. The group has been expanded to WC1N 3JH, UK. E-mail: [email protected] include opsismodysplasia and spondylo-metaphyseal Received 28 May 2002; Accepted 24 June 2002 dysplasia type Sedaghatianand is a collection of morpho- DOI 10.1002/ajmg.10828 logically similar disorders. ß 2002 Wiley-Liss, Inc. 66 Hall TABLE I. Update of Classification of Constitutional Disorders of Bone* Mode of OMIM Chromosome OMIM gene/ Osteochondrodysplasia inheritance* syndrome Comments locus Gene Gene product protein Osteochondrodysplasias 1. Achondroplasia group Thanatophoric dysplasia, type I (includes AD 187600 4p16.3 FGFR3 FGFR3 134934 San Diego Type) Thanatophoric dysplasia, type II AD 187601 4p16.3 FGFR3 FGFR3 134934 Achondroplasia AD 100800 4p16.3 FGFR3 FGFR3 134934 Hypochondroplasia AD 146000 4p16.3 FGFR3 FGFR3 134934 Hypochondroplasia AD 146000 other SADDAN (severe achondroplasia, AD 134934 4p16.3 FGFR3 FGFR3 developmental delay, acanthosis nigricans) 2. Severe spondylodysplastic dysplasias Lethal platyspondylic skeletal dysplasias SP 270230 (Torrance type, Luton type) 151210 Achondrogenesis type 1A AR 200600 Opsismodysplasia AR 258480 SMD Sedaghatian type AR 250220 See also: thanatophoric dysplasia, types I/II achondrogenesis types IB/II and group 3. 3. Metatropic dysplasia group Fibrochondrogenesis AR 228520 Schneckenbecken dysplasia AR 269250 Metatropic dysplasia (various forms) AD 156530 4. Short-rib dysplasia (SRP) (with or without polydactyly) group SRP type I/III (Saldino-Noonan/ AR 263510 Verma-Naumoff) 263510 SRP type II (Majewski) AR 263520 SRP type IV (Beemer) AR 269860 Asphyxiating thoracic dysplasia (Jeune) AR 208500 Chondroectodermal dysplasia (Ellis-van AR 225500 4p16 Creveld dysplasia) Thoracolaryngopelvic dysplasia (Barnes) AD 187760 5. Atelosteogenesis-omodysplasia group Atelosteogenesis type I (includes SP 108720 ‘‘Boomerang dysplasia’’) Omodysplasia I (Maroteaux) AD 164745 Omodysplasia II (Borochowitz) AR 258315 Atelosteogenesis type III AD 108721 de la Chapelle dysplasia AR 256050 See also: Group 6 5q32-q33 DTDST Sulfate transp. 6. Diastrophic dysplasia group Achondrogenesis 1B AR 600972 5q32-q33 DTDST Sulfate transp. Diastrophic dysplasia AR 222600 5q32-q33 DTDST Sulfate transp. MED Autosomal Recessive type AR 226900 See also: Group 11 5q32-q33 DTDST Sulfate transp. 7. Dyssegmental dysplasia group Dyssegmental dysplasia, AR 224410 PLC (HSPG2) Perlecan Silverman-Handmaker type Dyssegmental dysplasia, Rolland-Desbuquois type AR 224400 8. Type II collagenopathies Achondrogenesis II (Langer-Saldino) AD 200610 12q13.1-q13.3 COL2A1 Type II collagen 120140 Hypochondrogenesis AD 200610 12q13.1-q13.3 COL2A1 Type II collagen 120140 Spondyloepiphyseal dysplasia (SED) congenita AD 183900 12q13.1-q13.3 COL2A1 Type II collagen 120140 Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type AD 184250 12q13.1-q13.3 COL2A1 Type II collagen 120140 Kniest dysplasia AD 156550 12q13.1-q13.3 COL2A1 Type II collagen 120140 SED Namaqualand type AD 142670 12q13.1-q13.3 COL2A1 Type II collagen 120140 Spondyloperipheral dysplasia AD 271700 12q13.1-q13.3 COL2A1 Type II collagen 120140 Mild SED with premature onset arthrosis AD 12q13.1-q13.3 COL2A1 Type II collagen 120140 Stickler dysplasia type I AD 108300 12q13.1-q13.3 COL2A1 Type II collagen 120140 9. Type XI collagenopathies Stickler dysplasia type II AD 604841 Heterogeneous with or without ocular involvement Stickler dysplasia type III AD 184840 Without ocular Type XI involvement 1p21 COL11A1 collagen 120280 Type XI Marshall syndrome AD 154780 1p21 COL11A1 collagen 120280 Otospondylomegaepiphyseal dysplasia Type XI (OSMED) AR 215150 6p21.3 COL11A2 collagen 120290 Otospondylomegaepiphyseal Type XI dysplasia (OSMED) AD 215150 6p21.3 COL11A2 collagen 120290 Classification of Constitutional Bone Disorders 67 10. Other spondyloepi-(meta)-physeal [SE(M)D] dysplasias X-linked SED tarda XLD 313400 Xp22.2-p22.1 SEDL SEDLIN 300202 SEMD Handigodu type AD? ? the same as Mseleni joint disease Progressive pseudorheumatoid dysplasia AR 208230 6q22-q23 WISP3 603400 Dyggve-Melchior-Clausen dysplasia AR 223800 Transcription Wolcott-Rallison dysplasia AR 226980 2p12 EIF2AK3 factor Immuno-osseous dysplasia (Schimke) AR 242900 Schwartz-Jampel syndrome AR 255800 1q36-34 PLC (HSPG2) Perlecan 142461 SEMD with joint laxity (SEMDJL) AR 271640 SEMD with multiple dislocations (Hall) (leptodactylic type) SPONASTRIME dysplasia AR 271510 SEMD short limb-abnormal calcification type AR 271665 See also: Group 12 SEMD Pakistani type AR 603005 10q23-24 PAPSS2 PAPSS2 603005 Anauxetic dysplasia AR See: opsismodysplasia Group 2 11. Multiple epiphyseal dysplasias & pseudoachondroplasia Pseudoachondroplasia AD 177170 See also: Groups 8/10 19p12-13.1 COMP COMP 600310 Multiple epiphyseal dysplasia (MED) AD 132400 See also: Group 6 19p13.1 COMP COMP 600310 Type IX (Fairbanks and Ribbing types) AD 600204 1p32.2-33 COL9A2 collagen 120260 Type IX AD 600969 20q13.3 COL9A3 collagen 120270 AD 2p23-24 MATN3 Matrilin 3 602109 Familial hip dysplasia (Beukes) AD 142669 4q35 68 Hall TABLE I. (Continued) OMIM gene/ Mode of OMIM Chromosome protein Osteochondrodysplasia Inheritance* syndrome Comments locus Gene Gene product 12. Chondrodysplasia punctata (CDP) (stippled epiphyses group) Rhizomelic CDP type 1 AR 215100 6q22-q24 PEX7 PTS2 receptor 601757 Rhizomelic CDP type 2 AR 222765 1q42 DHPAT DHAPAT 602744 Rhizomelic CDP type 3 AR 600121 2q31 AGPS ADHAPS 603051
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