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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172