Achondroplasia group | | | | | | | |
Thanatophoric dysplasia, type I | AD | 187600 | + | 4p16.3 | FGFR3 | FGFR3 | 134934 |
Thanatophoric dysplasia, type II | AD | 187610 | + | 4p16.3 | FGFR3 | FGFR3 | 134934 |
Achondroplasia | AD | 100800 | + | 4p16.3 | FGFR3 | FGFR3 | 134934 |
Hypochondroplasia | AD | 146000 | – | 4p16.3 | FGFR3 | FGFR3 | 134934 |
Other FGFR3 disorders | | | | | | | |
Spondylodysplastic and other perinatally lethal groups | | | | | | | |
Lethal platyspondylic skeletal dysplasias (San Diego type, Torrance type, Luton type) | SP | 270230, 151210 | + + | | | | |
Achondrogenesis type 1A | AR | 200600 | + | | | | |
Metatropic dysplasia group | | | | | | | |
Fibrochondrogenesis | AR | 228520 | + | | | | |
Schneckenbecken dysplasia | AR | 269250 | + | | | | |
Metatropic dysplasia (various forms) | AD | 156530 | + | | | | |
Short rib dysplasia (SRP) (with or without polydactyly) group | | | | | | | |
SRP type I, Saldino–Noonan | AR | 263530 | + | | | | |
SRP type II, Majewski | AR | 263520 | + | | | | |
SRP type III, Verma–Naumoff | AR | 263510 | + | | | | |
SRP type IV, Beemer–Langer | AR | 269860 | + | | | | |
Asphyxiating thoracic dysplasia (Jeune) | AR | 208500 | + | | | | |
Chondroectodermal dyplasia (Ellis–van Creveld dysplasia) | AR | 225500 | + | 4p16 | | | |
Atelosteogenesis-omodysplasia group | | | | | | | |
Atelosteogenesis type I (includes "boomerang dysplasia") | SP | 108720 | + | | | | |
Omodysplasia I (Maroteaux) | AD | 164745 | + | | | | |
Omodysplasia II (Borochowitz) | AR | 258315 | + | | | | |
Otopalatodigital syndrome type II | XLR | 304120 | + | | | | |
Atelosteogenesis type III de la Chapelle dysplasia | SP AR | 108721 256050 | + + | | | | |
Diastrophic dysplasia group | | | | | | | |
Diastrophic dysplasia | AR | 222600 | + | 5q32-q33 | DTDST | Sulfatate transporter | |
Achondrogenesis 1B | AR | 600972 | + | 5q32-q33 | DTDST | Sulfatate transporter | |
Atelosteogenesis type II | AR | 256050 | + | 5q32-q33 | DTDST | Sulfatate transporter | |
Dyssegmental dysplasia group | | | | | | | |
Dyssegmental dysplasia, Silverman–Handmaker type | AR | 224410 | + | | | | |
Dyssegmental dysplasia, Rolland–Desbuquois type | AR | 224400 | + | | | | |
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 |
Kniest's dysplasia | AD | 156550 | + | 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, Strudwick type | AD | 184250 | + | 12q13.1-q13.3 | COL2A1 | Type II collagen | 120140 |
SED with brachydactyly | AD | | | 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's dysplasia (heterogeneous, some not linked to COL2A1) | AD | 108300 | + | 12q13.1-q13.3 | COL2A1 | Type II collagen | 120140 |
Type XI collagenopathies | | | | | | | |
Stickler dysplasia (heterogeneous) | AD | 184840 | + | 6p21 | COL11A1 | Type XI collagen | 120280 |
Otospondylomegaepiphyseal dysplasia | AR | 215150 | + | 6p21.3 | COL11A2 | Type XI collagen | 120290 |
| AD | | + | 6p21.3 | COL11A2 | Type XI collagen | 120290 |
Other spondyloepi-(meta)-physeal dysplasias [SE(M)D] | | | | | | | |
X-linked SED tarda | XLD | 313400 | – | Xp22.2-p22.1 | | | |
Other late-onset SE(M)D (Irapa) | AR | 271650 | – | | | | |
Progressive pseudorheumatoid dysplasia | AR | 208230 | – | | | | |
Dyggve–Melchior–Clausen dysplasia | AR | 223800 | + | | | | |
Wolcott–Rallison dysplasia | AR | 226980 | – | | | | |
Immuno-osseous dysplasia, Schimke | AR | 242900 | + | | | | |
Opsismodysplasia | AR | 258480 | + | | | | |
Chondrodystrophic myotonia | AR | 258480 | + | | | | |
(Schwartz–Jampel), types 1 and 2 | AR | 255800 | + | 1q36-34 | | | | |
SED with joint laxity | AR | 271640 | + | | | | |
Sponastrime dysplasia | AR | 271510 | – | | | | |
SEMD short limb, abnormal calcification | AR | 271665 | + | | | | |
Multiple epiphyseal dysplasias (MEDs) and pseudoachondroplasia | | | | | | | |
Pseudoachondroplasia | AD | 177170 | – | 19p12-13.1 | COMP | COMP | 600310 |
MED (Fairbanks and Ribbing types) | AD | 132400 | – | | | | |
| AD | 600204 | – | 19p12-13.1 | COMP | COMP | 600310 |
Other MEDs | ? | 600969 | – | 1p32.2-33 | COL9A2 | Type IX collagen | 120260 |
Chondrodysplasia punctata (stippled epiphyses group) | | | | | | | |
Rhizomelic type | AR | 215100 | + | 4p16-p14 | PEX7 | Peroxin-7 | 601757 |
Zellweger syndrome | AR | 214100 | + | 7q11.23 | PEX1 | | |
| AR | 214100 | + | 6p21.1 | PEX6 | Peroxin-6 | 601498 |
| AR | 214100 | + | 7q11.23 | PEX1 | Peroxin-1 | 602136 |
| AR | 214100 | + | 12 | PEX5 | Peroxin-5 | |
| AR | 214100 | + | 8q21.1 | PEX2 | Peroxin-2 | 170993 |
Conradi–Hünermann type | XLD | 302950 | + | Xq28 | CPXD | | |
X-linked recessive type | XLR | 302940 | + | Xp22.3 | CPXR | | |
Brachytelephalangic type | XLR | 302940 | + | Xp22.32 | ARSE | Arylsulfatase E | 302950 |
Tibial–metacarpal type | AD | 118651 | + | | | | |
Vitamin K–dependent coagulation defect | AR | 277450 | + | | | | |
Other acquired and genetic disorders including warfarin embryopathy | | | | | | | |
Metaphyseal dysplasias | | | | | | | |
Jansen type | AD | 156400 | + | 3p22-p21.1 | PTHR | PTHR/PTHRP | 168468 |
Schmid type | AD | 156500 | – | 6q21-q22.3 | COL10A1 | COL10 α chain | 120110 |
McKusick type (cartilage–hair hypoplasia) | AR | 250250 | + | 9p13 | | | |
Metaphyseal anadysplasia | XLR? | 309645 | – | | | | |
Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (Shwachman–Diamond) | AR | 260400 | – | | | | |
Adenosine deaminase deficiency | AD | 102700 | – | 20q-13.11 | ADA | Adenosine deaminase | 102700 |
Metaphyseal chondrodysplasia, Spahr type | AR | 250400 | – | | | | |
Acroscyphodysplasia (various types) | AR | 250215 | – | | | | |
Spondylometaphyseal dysplasias (SMDs) | | | | | | | |
Spondylometaphyseal dysplasia | AD | 184252 | + | | | | |
Kozlowski type | | | | | | | |
SMD, Sutcliffe type | AD | 184255 | + | | | | |
SMD with severe genu valgum (includes Schmidt and Algerian types) | AD | 184253 | + | | | | |
SMD, Sedaghatian type | AR | | + | | | | |
Mild SMD, different types that have not been well delineated | | | – | | | | |
Brachyolmia spondylodysplasias | | | | | | | |
Hobaek (includes Toledo type) | AR | 271530-630 | – | | | | |
Maroteaux type | AR | | – | | | | |
Autosomal dominant type | AD | 113500 | – | | | | |
Mesomelic dysplasias | | | | | | | |
Dychondrosteosis (Leri–Weill) | AD | 127300 | – | | | | |
Langer type (homozygous dyschondrosteosis) | AR | 249700 | + | | | | |
Nievergelt type | AD | 163400 | + | | | | |
Kozlowski–Reardon type | AR | | + | | | | |
Reinhardt–Pfeiffer type | AD | 191400 | + | | | | |
Werner type | AD | | + | | | | |
Robinow type, dominant | AD | 180700 | – | | | | |
Robinow type, recessive | AR | 268310 | – | | | | |
Mesomelic dysplasia with synostoses | AD | 600383 | + | | | | |
Acromelic and acromesomelic dysplasias | | | | | | | |
Acromicric dysplasia | AD | 102370 | + | | | | |
Geleophysic dysplasia | AR | 231050 | + | | | | |
Weill–Marchesani dysplasia | AR | 277600 | + | | | | |
Cranioectodermal dysplasia | AR | 218330 | + | | | | |
Trichorhinophalangeal dysplasia type I | AD | 190350 | + | 8q24.12 | TRPS1 | | |
Trichorhinophalangeal dysplasia type II (Langer–Giedeon) | AD | 150230 | + | 8q24.11-q24.13 | TRPS1 + EXT1 | | |
Trichorhinophalangeal dysplasia type III | AD | 190351 | + | | | | |
Grebe dysplasia | AR | 200700 | + | 20q11.2 | CDMP1 | Cartilage-derived morphogenic protein 1 | 601146 |
Hunter–Thompson dysplasia | AR | 201250 | + | 20q11.2 | CDMP1 | Cartilage-derived morphogenic protein 1 | 601146 |
Brachydactyly types A1–A4 | AD | 112500-800 | + | | | | |
Brachydactyly type B | AD | 113000 | + | | | | |
Brachydactyly type C | AD | 133100 | + | 21q11 | CDMP1 | Cartilage-derived morphogenic protein 1 | 601196 |
Brachydactyly type D | AD | 113200 | + | | | | |
Brachydactyly type E | AD | 113000 | – | | | | |
Pseudohypoparathyroidism (Albright hereditary osteodystrophy), various types; see OMIM | | | | 20q13 | GNAS1 | Quanine nucleotide binding binding protein of edenylate cyclase α subunit | 139320 |
Acrodysostosis | SP (AD) | 101800 | – | | | | |
Saldino–Mainzer dysplasia | AR | 266920 | – | | | | |
Brachydactyly–hypertension dysplasia (Bilginturan) | AD | 112410 | + | 12p | | | |
Craniofacial conodysplasia | AD | | + | | | | |
Angel-shaped phalango-epiphyseal dysplasia | AD | 105835 | + | | | | |
Acromesomelic dysplasia | AR | 201250 | + | | | | |
Other acromesomelic dysplasias | | | | | | | |
Dysplasias with prominent membranous bone involvement | | | | | | | |
Cleidocranial dysplasia | AD | 119600 | + | 6p21 | CBFA1 | Core binding factor α1 subunit | 600211 |
Osteodysplasty, Melnick–Needles | XLD | 309350 | – | | | | |
Precocious osteodysplasty (terHaar's dysplasia) | AR | | + | | | | |
Yunis–Varon dysplasia | AR | 216340 | + | | | | |
Bent bone dysplasia group | | | | | | | |
Campomelic dysplasia | AD | 114290 | + | 17q24.3-q25.1 | SOX9 | SRY-box 9 | 211970 |
Kyphomelic dysplasia | ?AR | 211350 | + | | | | |
Stüve–Wiedemann dysplasia | AR | 601559 | + | | | | |
Multiple dislocations with dysplasias | | | | | | | |
Larsen's syndrome | AD | 150250 | + | 3p21.1-p14.1 | LARI | | |
Larsen-like syndromes (including La Reunion Island) | AR | 245600 | + | | | | |
Desbuquois dysplasia | AR | 251450 | + | | | | |
Pseudodiastrophic dysplasia | AR | 264180 | + | | | | |
Dysostosis multiplex group | | | | | | | |
Mucopolysaccharidosis IH | AR | 252800 | – | 4p16.3 | IDA | α-1-Iduronidase | |
Mucopolysaccharidosis IS | AR | 252800 | – | 4p16.3 | IDA | α-1-Iduronidase | |
Mucopolysaccharidosis II | XLR | 309900 | – | Xq27.3-q28 | IDS | Iduronate-2-sulfatase | |
Mucopolysaccharidosis IIIA | AR | 252900 | – | 17q25.3 | HSS | Heparan sulfate sulfatase | |
Mucopolysaccharidosis IIIB | AR | 252920 | | 17q21 | | N-Ac-α-D-glucosaminidase | |
Mucopolysaccharidosis IIIC | AR | 252930 | – | | | Ac-CoA: α-glucosaminidase-N-acetyltransferase | |
Mucopolysaccharidosis IIID | AR | 252940 | – | 12q14 | GNS | N-Ac-glucosamine-6-sulfatase | |
Mucopolysaccharidosis IVA | AR | 230500 | – | 16q24.3 | GALNS | Galactose-6-sulfatase | |
Mucopolysaccharidosis IVB | AR | 230500 | – | 3p21.33 | GLBI | β-Galactosidase | |
Mucopolysaccharidosis VI | AR | 253200 | – | 5q13.3 | ARSB | Arylsulfatase B | |
Mucopolysaccharidosis VII | AR | 253200 | – | 7q21.11 | GUSB | β-Glucuronidase | |
Fucosidosis | AR | 230000 | – | 1p34 | FUCA | α-Fucosidase | |
α-Mannosidosis | AR | 248500 | – | 19p13.2-q12 | MAN | α-Mannosidase | |
β-Mannosidosis | AR | 248510 | – | 4 | MANB | β-Mannosidase | | |
Aspartylglucosaminuria | AR | 208400 | – | 4q23-q27 | AgA | Aspartylglucosaminidase | |
GMI gangliosidosis, several forms | AR | 230500 | + | 3p21-p14.2 | GLB1 | β-Galactosidase | |
Sialidosis, several forms | AR | 256550 | +/− | 6p21.3 | NEU | α-Neuraminidase | |
Sialic acid storage disease | AR | 269920 | +/− | 6q14-q15 | SIASD | | |
Galactosialidosis, several forms | AR | 256540 | | 20q13.1 | PPGB | β-Galactosidase protective protein | |
Multiple sulfatase deficiency | AR | 272200 | +/− | | | Multiple sulfatases | |
Mucolipidosis II | AR | 252500 | + | 4q21-23 | GNPTA | N-Ac-Glucosamine-phosphotransferase | |
Mucolipidosis III | AR | 252600 | – | 4q21-23 | GNPTA | N-Ac-Glucosamine-phosphotransferase | |
Osteodysplastic slender bone group | | | | | | | |
Type I osteodysplastic dysplasia | AR | 210710 | + | | | | |
Type II osteodysplastic dysplasia | AR | 210720 | + | | | | |
Microcephalic osteodysplastic dysplasia | AR | | | | | | |
Dysplasias with decreased bone density | | | | | | | |
Osteogenesis imperfecta I (without opalescent teeth) | AD | 166200 | +/− | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
Osteogenesis imperfecta I (with opalescent teeth) | AD | 166240 | +/− | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
| AD | 166240 | +/− | 7q22.1 | COL1A2 | α(2)I Procollagen | 120160 |
Osteogenesis imperfecta II | AD | 166210 | + | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
| AD | 166210 | + | 7q22.1 | COL1A2 | α(2)I Procollagen | 120160 |
| AR | 259400 | + | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
Osteogenesis imperfecta III | AD | 259420 | + | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
| AD | 259420 | + | 7q22.1 | COL1A2 | α(2)I Procollagen | 120160 |
| AR | 259420 | + | 7q22.1 | COL1A2 | α(2)I Procollagen | 120160 |
| AR | 259420 | + | | | | |
Osteogenesis imperfecta IV (without opalescent teeth) | AD AD | 166220 166220 | + + | 7q22.1 17q21 | COL1A2 COL1A1 | α(2)I Procollagen α(1)I Procollagen | 120160 120150 |
Osteogenesis imperfecta IV (with opalescent teeth) | AD | 166220 | + | 7q22.1 | COL1A2 | α(2)I Procollagen | 120160 |
| AD | 166220 | + | 17q21 | COL1A1 | α(1)I Procollagen | 120150 |
Cole–Carpenter dysplasia | SP | 112240 | + | | | | |
Bruck's dysplasia | AR | 259450 | + | | | | |
Singleton–Merton dysplasia | AR | | | | | | |
Osteopenia with radiolucent lesions of the mandible | AD | 166260 | | | | | |
Osteoporosis-pseudoglioma dysplasia | AR | 259770 | – | 11q12-q13 | | | |
Geroderma osteodysplasticum | AR | 231070 | – | | | | |
Hyper-IGE syndrome with osteopenia | AR | 147060 | – | | | | |
Idiopathic juvenile osteroporosis | SP | 259750 | – | | | | |
Dysplasias with defective mineralization | | | | | | | |
Hypophosphatasia, perinatal | AR | 241500 | + | 1p36.1-p34 | ALPL | Alkaline phosphatase | 171760 |
lethal and infantile forms | | | | | | | |
Hypophosphatasia, adult form | AD | 146300 | – | 1p36.1-p34 | | | |
Hypophosphatemic rickets | XLD | 307800 | – | Xp22.2-p22.1 | PHEX | X-linked hypophosphatemia protein | 171760 |
Neonatal hyperparathyroidism | AR | 239200 | + | 3q21-q24, 19p13.3 | CASR | Calcium sensor | 601199 |
Transient neonatal hyperparathyroidism with hypocalciuric hypercalcemia | AD AD | 145980 | + + | 3q21-q24 19p13.3 | CASR | Calcium sensor | 601199 |
Increased bone density without modification of bone shape | | | | | | | |
Osteopetrosis | | | | | | | |
Precocious type | AR | 259700 | + | 11q12-13 | | | |
Delayed type | AD | 166600 | – | 1p21 | | | |
Intermediate type | AR | 259710 | + | | | | |
With renal tubular acidosis | AR | 259730 | + | 8q22 | CA2 | Carbonic anhydrase II | |
Axial osteosclerosis | | | | | | | |
Osteomesopyknosis | AD | 166450 | – | | | | |
With bamboo hair | AR | 266500 | – | | | | |
Pyknodysostosis | AR | 265800 | + | 1q21 | CTSK | Cathepsin K | 601105 |
Osteosclerosis, Stanescu type | AD | 122900 | + | | | | |
Osteopathia striata | | | | | | | |
Isolated | SP | | – | | | | |
With cranial sclerosis | AD | 166500 | – | | | | |
Sponastrime dysplasia | AR | 271510 | + | | | | |
Melorheostosis | SP | 155950 | – | | | | |
Osteopoikilosis | AD | 166700 | – | | | | |
Mixed sclerosing bone dysplasia | SP | | – | | | | |
van Buchem type | AR | 239100 | – | | | | |
Worth type | AD | 144750 | – | | | | |
Sclerosteosis | AR | 269500 | – | | | | |
With cerebellar hypoplasia | AR | 213002 | + | | | | |
Kenny–Caffey dysplasia | AD, AR | 127000, 244460 | – | | | | |
Osteoectasia with hyperphosphatasia (juvenile Paget's) | AR | 239000 | – | | | | |
Diaphyseal dysplasia with anemia | AR | 231095 | – | | | | |
Diaphyseal medullary stenosis with bone malignancy (Hardcastle) | AD | 112250 | – | | | | |
Increased bone density with metaphyseal involvement | | | | | | | |
Pyle dysplasia | AR | 265900 | – | | | | |
Craniometaphyseal dysplasia | | | | | | | |
Severe type | AR | 218400 | + | | | | |
Mild type | AD | 123000 | – | 5p15.2-p14.2 | | | |
Other types | | | | | | | |
Frontometaphyseal dysplasia | XLR | 305620 | – | | | | |
Dysosteosclerosis | AR | 224300 | – | | | | |
| XLR | | | | | | |
Oculodentoosseous dysplasia | AD | 257850 | + | | | | |
| AR | 164200 | + | | | | |
Trichodentoosseous dysplasia | AD | 190320 | – | 17q21 | | | |
Neonatal severe osteosclerotic dysplasias | | | | | | | |
Blomstrand's dysplasia | AR | 215045 | + | | | | |
Raine's dysplasia | ? | 259775 | + | | | | |
Prenatal onset Caffey's disease | ?AR | 114000 | + | | | | |
Lethal chondrodysplasias with fragmented bones | | | | | | | |
Greenberg's dysplasia | AR | 215140 | + | | | | |
Dappled diaphyseal dysplasia | AR | | + | | | | |
Astley-Kendall dysplasia | AR | | + | | | | |
Disorganized development of cartilaginous and fibrous components of the skeleton | | | | | | | |
Dysplasia epiphysealis hemimelica | SP | 127800 | – | | | | |
Multiple cartilaginous exostoses | AD | 133700 | – | 8q23-q24.1 | EXT1 | Exostosin-1 | |
| AD | 133701 | – | 11p12-p11 | EXT2 | Exostosin-2 | |
| AD | 600209 | – | 19p | EXT3 | | |
Enchondromatosis, Ollier | SP | 166000 | – | | | | |
Enchondromatosis with hemangiomata (Maffucci) | SP | 166000 | – | | | | |
Spondyloenchondromatosis | AR | 271550 | – | | | | |
Spondyloenchondromatosis with basal ganglia calcification | AR | | – | | | | |
Dysspondyloenchondromatosis | | | – | | | | |
Metachondromatosis | AD | 156250 | | | | | |
Osteoglophonic dysplasia | AD | 166250 | + | | | | |
Genochondromatosis | AD | 166000 | – | | | | |
Carpotarsal osteochondromatosis | AD | 127820 | – | | | | |
Fibrous dysplasia (McCune-Albright and others) | SP mosaic | 174800 | – | 20q13 | GNAS1 | Guanine nucleotide protein, α subunit | 139320 |
Jaffe–Campanucci | SP | | | | | | |
Fibrodysplasia ossificans progressiva | AD | 135100 | + | 14q22-q23 | BMP4 | Bone morphogenic protein 4 | 112262 |
Cherubism | AD | 118400 | – | | | | |
Cherubism with gingival fibromatosis | AR | 135300 | – | | | | |
Osteolyses | | | | | | | |
Multicentric predominantly carpal and tarsal in the hand | | | | | | | |
Multicentric carpal–tarsal osteolysis with and without nephropathy | AD | 166300 | – | | | | |
Shinohara carpal–tarsal osteolysis | | | – | | | | |
Multicentric predominantly carpal, tarsal, and interphalangeal | | | | | | | |
Francois's syndrome | AR | 221800 | – | | | | |
Winchester's syndrome | AR | 277950 | – | | | | |
Torg's syndrome | AR | 259600 | – | | | | |
Whyte–Hemingway carpal–tarsal phalangeal osteolyses | AD | | – | | | | |
Predominantly distal phalanges | | | | | | | |
Hadju–Cheney syndrome | AD | 102500 | – | | | | |
Giacci's familial neurogenic acroosteolysis | AR | 201300 | – | | | | |
Mandibulo acral syndrome | AR | 248370 | – | | | | |
Predominantly involving diaphyses and metaphyses | | | | | | | |
Familial expansile osteolysis | AD | 174810 | – | 18q21.1-q22 | | | |
Juvenile hyaline fibromatosis | AR | 228600 | + | | | | |
Patella dysplasias | | | | | | | |
Nail patella dysplasia | AD | 161200 | – | 9q34.1 | NPS1 | | |
Scyphopatellar dysplasia | AD | | + | | | | |