Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

35 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, congenital, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

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

MeSH Record

History Note

1985(1964)

MeSH Hierarchy

Tree Number

  1. C05w.116w.099.708w.195w

AMA Style

References

  1. National Library of Medicine. Chondrodysplasia Punctata. Medical Subject Headings (MeSH). 2026. Unique ID D002806. http://id.nlm.nih.gov/mesh/2026/D002806
  2. Chondrodysplasia Punctata. In: Wikipedia. https://en.wikipedia.org/wiki/Chondrodysplasia_punctata
  3. Chondrodysplasia Punctata. In: Wikidata. https://www.wikidata.org/wiki/Q1076060