Classification

 Chondrodysplasias (ostechondrodysplasias with defects of the tubular bones or axial skeleton)

• short-trunk chondrodysplasias
  • achondrogenesis
  • hypochondrogenesis
  • spondyloepiphyseal dysplasia congenita
  • Kniest dysplasia
  • dyssegmental dysplasia
  • atelosteogenesis (spondylohumerofemoral hypoplasia)
  • boomerang dysplasia
  • fibrochondrogenesis
  • Schneckenbecken dysplasia

• non-short-trunk chondrodysplasia with platyspondyly
  • achondroplasia
  • thanatophoric dysplasia
  • thanatophoric dysplasia with cloverleaf skull
  • metatropicdysplasia
  • opsismodysplasia
  • spondylodysplasias (Torrence, San Diego, Luton)

• short-rib dysplasias (with or without polydactyly)
  • asphyxiating thoracic dysplasia (Jeune syndrome)
  • Ellis-van Creveld syndrome (chondroectodermal dysplasia)
  • short-rib dysplasias with polydactyly
  • unclassified short-rib dysplasias

• chondrodysplasia punctata (stippled epiphysis, chondrodysplasia calcificans congenita)
  • Greenberg dysplasia
  • dappled diaphysis dysplasia
  • rhizomelic type chondrodysplasia punctata
  • Conradi-Hünermann type chondrodysplasia punctata
  • tibial-metacarpal type chondrodysplasia punctata
  • brachytelephalangic type chondrodysplasia punctata

• campomelic dysplasia
• kyphomelic dysplasia (short-limbed capmtomelic dysplasia)
• diastrophic dysplasia
• Larsen syndrome
• Desbuqois syndrome
• mesomelic dysplasias
• acromesomelic dysplasia
• otopalatodigital syndrome

 osteodysplasias with abnormal bone density

• osteogenesis imperfecta
• osteopetrosis
• pycnodysostosis
• osteosclerosis (dominant osteosclerosis type Stanescu)
• infantile cortical hyperostosis (Coffey disease)

 osteochondrodysplasias with defective mineralization and metabolic anomalies

• hypophosphatasia
• mucolipidosis II (I-cell disease)
• mucopolysaccharidosis VII (beta-glucuronidase deficiency)

 unclassified osteochondrodysplasias

• atelosteogenesis type II (McALister dysplasia)
• Glasgow round femoral inferior epiphysis chondrodysplasia
• Dapppled diaphyseal dysplasia
• Greenberg dysplasia
• lethal brittle bone syndrome
• Raine syndrome
• dysplastic cortical hyperostosis