Diseases

Rhizomelic Chondrodysplasia Punctata

An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

6 entry terms
  • Chondrodysplasia Punctata, Rhizomelic
  • Chondrodysplasia Punctata, Rhizomelic Form
  • Chondrodysplasia Punctatas, Rhizomelic
  • Punctata, Rhizomelic Chondrodysplasia
  • Punctatas, Rhizomelic Chondrodysplasia
  • Rhizomelic Chondrodysplasia Punctatas

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, 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

a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

MeSH Record

History Note

1996

MeSH Record

Previous Indexing

  • Chondrodysplasia Punctata (1971-1995)

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.099.708w.195w.200w
  2. C16w.320w.565w.663w.265w
  3. C18.452w.648w.663w.265w

AMA Style

References

  1. National Library of Medicine. Rhizomelic Chondrodysplasia Punctata. Medical Subject Headings (MeSH). 2026. Unique ID D018902. http://id.nlm.nih.gov/mesh/2026/D018902
  2. Rhizomelic Chondrodysplasia Punctata. In: Wikipedia. https://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata
  3. Rhizomelic Chondrodysplasia Punctata. In: Wikidata. https://www.wikidata.org/wiki/Q7320761