Trisha Shetty (Editor)

Chondrodysplasia punctata

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Specialty
  
medical genetics

DiseasesDB
  
32527 31410 34567

ICD-10
  
Q77.3

MeSH
  
D002806

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.

Types include:

  • Rhizomelic chondrodysplasia punctata 215100, 222765, 600121
  • X-linked recessive chondrodysplasia punctata 302950
  • Conradi-Hünermann syndrome 302960
  • Autosomal dominant chondrodysplasia punctata 118650

    • References

    Chondrodysplasia punctata Wikipedia
    (Text) CC BY-SA