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osteochondrodysplasias

Tuesday 15 June 2004

Definition: Genetic diseases of skeletal development.

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 (Cases 10552 and 10556)
    • thanatophoric dysplasia with cloverleaf skull
    • metatropicdysplasia
    • opsismodysplasia
    • spondylodysplasias (PLSDs) (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 (Short rib-polydactyly syndromes) (Case 10557 and 10558)
    • unclassified short-rib dysplasias
  • chondrodysplasia punctata group (stippled epiphysis, chondrodysplasia calcificans congenita)
    • Greenberg dysplasia
    • dappled diaphysis dysplasia
    • rhizomelic type chondrodysplasia punctata
    • Conradi-H√ľnermann 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

  • hypophosphatasia

- osteochondrodysplasias with metabolic anomalies

  • mucolipidoses (MLs)
    • mucolipidosis II (ML2) (I-cell disease)
    • mucolipidosis III (ML3)
  • mucopolysaccharidoses (MPSs)
    • mucopolysaccharidosis I-H
    • mucopolysaccharidosis I (MPS1)
    • mucopolysaccharidosis II (MPS2)
    • mucopolysaccharidosis III (MPS3)
    • mucopolysaccharidosis IV (MPS4)
    • mucopolysaccharidosis VI (MPS6)
    • mucopolysaccharidosis VII (MPS7) (beta-glucuronidase deficiency)
  • GM1 gangliosidosis
  • sialidosis/galactosialidosis
  • mannosidosis
  • fucosidosis
  • aspartylglucosaminuria
  • sialic acid storgae disease

- 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

Variants

- lethal osteochondrodysplasias
- osteochondrodysplasias with predominant metaphyseal involvement
- osteochondrodysplasias with predominant epiphyseal involvement
- osteochondrodysplasias with predominant diaphyseal involvement
- osteochondrodysplasias with major spinal involvement
- osteochondrodysplasias with multiple dislocations
- osteochondrodysplasias with predominant involvement of single sites or segments

  • spine
  • rhizomelic
  • peripheral

- osteochondrodysplasias with decreased bone density

  • osteogenesis imperfecta (OIs)
  • idiopathic osteoporosis
  • geroderma osteodysplasticum
  • Stuve-Wiedemann syndrome

- osteochondrodysplasias with increased bone density
- osteochondrodysplasias due to disorganized development of bone constituents
- osteolyses

Case records

- Case 10552: Thanatophoric dysplasia
- Case 10556: Thanatophoric dysplasia
- Case 10557: Short rib-polydactyly syndrome
- Case 10558: Short rib-polydactyly syndrome
- Case 10610: Achondrogenesis type 2

Portfolio

  • Short rib-polydactyly syndrome
  • Short rib-polydactyly syndrome
  • chondrodysplasia punctata
  • chondrodysplasia punctata
  • chondrodysplasia punctata
  • chondrodysplasia punctata
  • chondrodysplasia punctata
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia
  • Thanatophoric dysplasia (20 weeks)
  • Thanatophoric dysplasia (20 weeks)
  • Thanatophoric dysplasia (20 weeks)
  • Thanatophoric dysplasia (20 weeks)
  • Campomelic dysplasia
  • Campomelic dysplasia
  • Campomelic dysplasia
  • Thanatophoric dysplasia (Fetus, 20 weeks)
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta
  • Achondrogenesis type 2
  • Achondrogenesis type 2
  • Spondylometaphyseal dysplasia
  • Spondylometaphyseal dysplasia
  • Spondylometaphyseal dysplasia
  • Fetal femur in short rib-polydactyly syndrome