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Table 1 Number of published cases of genetic skeletal diseases in Chinese and Europe biomedical literature listed in alphabetical order of diseases*

From: A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

Diseases or group of diseases Number of Cases reported in Chinese biomedical literature Number of published cases in Europe[8] Estimated prevalence in Europe (/100,000)[8]
Achondroplasia 685   4.5
Acrofacial dysostosis, Nager type 3 90  
alpha-Mannosidosis 1   0.1
Apert syndrome 16   1.25
Asphyxiating thoracic dysplasia 45 150  
Brachydactyly 88 80  
Caffey disease 280 N.A.  
Calcium pyrophosphate deposition disease (familial chondrocalcinosis) type 2 1 N.A.  
Cartilage-hair hypoplasia (CHH; metaphyseal dysplasia,McKusick type) 3 N.A.  
Cherubism 105 N.A.  
Chondrodysplasia punctata 7   0.5
Chondroectodermal dysplasia (Ellis–van Creveld) 11 150  
Cleidocranial dysplasia 260 N.A  
Congenital contractural arachnodactyly 7 N.A.  
Craniofrontonasal syndrome 1 3  
Craniometaphyseal dysplasia 4 70  
Craniostenosis (Craniosynostosis) 302 72  
Crouzon syndrome 161   2
Currarino triad 31   1
de Lange syndrome 7   1.9
Diaphyseal dysplasia Camurati-Engelmann 14 200  
Dysplasia epiphysealis hemimelica (Trevor) 53 N.A.  
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome 5 N.A.  
Ehlers–Danlos syndrome 57   0.2
Enchondromatosis (Ollier) 369 600  
Enchondromatosis with hemangiomata (Maffucci) 80 250  
Endosteal hyperostosis, van Buchem type 8 N.A.  
Familial expansile osteolysis 1 N.A.  
Familial hip dysplasia (Beukes) 45 N.A.  
Familial osteochondritis dissecans 1 N.A.  
Fanconi anemia 107   0.3
Fibrous dysplasia, polyostotic form 982   <50
Frontometaphyseal dysplasia 1 <30  
Frontonasal dysplasia 4 N.A.  
Fucosidosis 1 100  
Fuhrmann syndrome 1 11  
GM1 Gangliosidosis, several forms 7 N.A.  
Grebe dysplasia 2 N.A.  
Greig cephalopolysyndactyly syndrome 2 100  
Hajdu–Cheney syndrome 7 N.A.  
Hallermann–Streiff syndrome 32 <100  
Hanhart syndrome(hypoglossia-hypodactylia) 1 <50  
Holt-Oram syndrome 218   1
Hypertrophic osteoarthropathy 36 N.A.  
Hypochondroplasia 3   3.3
Hypophosphatasia, perinatal lethal and infantile forms 19 N.A.  
Hypophosphatemic rickets 43 <100  
Idiopathic juvenile osteoporosis 1 5  
Immuno-osseous dysplasia (Schimke) 3 50  
Infantile systemic hyalinosis/Juvenile hyaline fibromatosis (ISH/JHF) 3 N.A.  
Klippel-Feil anomaly with laryngeal malformation 318   2
Kniest dysplasia 1 2  
Langer type (Homozygous dyschondrosteosis) 2 N.A.  
Larsen syndrome 9 100  
Lipomembraneous osteodystrophy with leukoencephalopathy (presenile dementia with bone cysts; Nasu–Hakola) 2   0.15
Mandibulo-facial dysostosis(Treacher-Collins, Franceschetti-Klein) 198   6
Marfan syndrome 5064   20
Marshall syndrome 2 63  
Meckel syndrome 35   2.5
Melorheostosis 153 300  
Melorheostosis with osteopoikilosis 6 N.A.  
Mesomelic dysplasia 4 2  
Metaphyseal dysplasia, Jansen type 3 16  
Metaphyseal dysplasia, Schmid type (MCS) 53 N.A.  
Mucolipidosis II (I-cell disease),alpha/beta type 2   0.15
Mucopolysaccharidosis 958   3.56
Multicentric carpal-tarsal osteolysis with and without nephropathy 2 <10  
Multiple cartilaginous exostoses 911   2
Multiple epiphyseal dysplasia 122   5
Multiple sulfatase deficiency 1 50  
Multiple synostoses syndrome 1 20  
Nail-patella syndrome 61   2
Neonatal hyperparathyroidism, severe form 4 N.A.  
Neurofibromatosis type 1 (NF1) 881   25
Oculodentoosseous dysplasia 8 243  
Omodysplasia 1 30  
Oral-facial-digital syndrome 15   1.2
Osteoectasia with hyperphosphatasia (juvenile Paget disease) 4 50  
Osteogenesis imperfecta 1314   6.5
Osteopetrosis 810   1.75
Osteopoikilosis 338 300  
Pachydermoperiostosis (hypertrophic osteoarthropathy,primary, autosomal dominant) 25 204  
Pallister-Hall syndrome 1 100  
Parietal foramina 11   5
Pfeiffer syndrome 4   1
Poland anomaly 27 3  
Preaxial polydactyly 16   25
Progeria, Hutchinson–Gilford type 20   0.005
Progressive osseous heteroplasia 20 N.A.  
Progressive pseudorheumatoid dysplasia (PPRD; SED with progressive arthropathy) 6 N.A.  
Proteus syndrome 22 200  
Proximal symphalangism 15 N.A.  
Pseudoachondroplasia (PSACH) 51   1.6
Pyknodysostosis 14   0.13
Pyle disease 2 <30  
Radio-ulnar synostosis 55 <20  
Saethre–Chotzen syndrome 1   3
Schwartz–Jampel syndrome (myotonic chondrodystrophy) 4 100  
SED tarda, X-linked (SED-XL) 156   0.55
SED, Wolcott–Rallison type 1 <60  
Short rib-polydactyly syndrome 57 N.A.  
Shprintzen-Goldberg syndrome 1 <50  
Sotos syndrome 38   7
Split hand-foot malformation 25   1.1
Spondylocostal dysostosis 1 4  
Spondyloepiphyseal dysplasia congenita (SEDC) 50   0.34
Spondylometaphyseal dysplasia 6   1
Spondylometaphyseal dysplasia, Kozlowski type 2   0.1
Sterile multifocal osteomyelitis,periostitis, and pustulosis (CINCA/NOMID-like) 1 N.A.  
Stickler syndrome 7   13.5
Syndactyly type 5 (HOXD13) 7 N.A.  
Thanatophoric dysplasia 28   3.5
Thrombocytopenia-absent radius 1 N.A.  
Tibial hemimelia 2   0.1
Trichorhinophalangeal dysplasia 15 >100  
  1. *: Different types belong to one diseases have been combined as one item when the typing information was not provided in literature.