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Chondrodysplasia Punctata

A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

Year introduced: 1985(1964)

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Subheadings:

Tree Number(s): C05.116.099.708.195

MeSH Unique ID: D002806

Entry Terms:

  • Stippled Epiphyses
  • Epiphyses, Stippled
  • Chondrodystrophia Calcificans Congenita
  • Dysplasia Epiphysialis Punctata
  • Hunermann-Conradi Syndrome
  • Hunermann Conradi Syndrome
  • Conradi-Hunermann Syndrome
  • Conradi Hunermann Syndrome
  • Conradi Hunermann Happle Syndrome
  • Happle Syndrome
  • X-Linked Dominant Chondrodysplasia Punctata
  • X Linked Dominant Chondrodysplasia Punctata
  • X-Linked Chondrodysplasia Punctata 2
  • X Linked Chondrodysplasia Punctata 2
  • Chondrodysplasia Punctata 2, X-Linked
  • Chondrodysplasia Punctata 2, X Linked
  • Conradi-Hünermann Syndrome
  • Conradi Hünermann Syndrome
  • Conradi-Hünermann Syndromes
  • Conradi-Hünermann-Happle Syndrome
  • Conradi Hünermann Happle Syndrome
  • Conradi-Hünermann-Happle Syndromes
  • Chondrodysplasia Punctata 2, X-Linked Dominant
  • Chondrodysplasia Punctata 2, X Linked Dominant
  • Conradi-Hunermann-Happle Syndrome
  • Conradi-Hunermann-Happle Syndromes

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