Diseases

Camurati-Engelmann Syndrome

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

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MeSH Record

Synonyms

15 entry terms
  • Camurati-Engelmann Disease
  • Diaphyseal Dysplasia 1, Progressive
  • Diaphyseal Dysplasia, Progressive
  • Diaphyseal Hyperostosis
  • Engelmann Disease
  • Engelmann's Disease
  • Progressive Diaphyseal Dysplasia
  • Camurati Engelmann Disease
  • Camurati Engelmann Syndrome
  • Diaphyseal Dysplasias, Progressive
  • Diaphyseal Hyperostoses
  • Dysplasia, Progressive Diaphyseal
  • Dysplasias, Progressive Diaphyseal
  • Hyperostoses, Diaphyseal
  • Hyperostosis, Diaphyseal

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

History Note

2007(1975)

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References

  1. National Library of Medicine. Camurati-Engelmann Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D003966. http://id.nlm.nih.gov/mesh/2026/D003966
  2. Camurati-Engelmann Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Camurati%E2%80%93Engelmann_disease
  3. Camurati-Engelmann Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q498487