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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Chondrodysplasia Punctata
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Chondrodysplasia Punctata

Preferred term

Chondrodysplasia Punctata  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • Chondrodystrophia Calcificans Congenita
  • Dysplasia Epiphysialis Punctata
  • Epiphyses, Stippled
  • Stippled Epiphyses

Note

  • spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available

Scope note

  • 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.

History note

  • 1985(1964)

In other languages

URI

http://www.yso.fi/onto/mesh/D002806

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