Camamurati-Engelmann Disease

Alternative Names

  • CAEND
  • CED
  • Engelmann Disease
  • Diaphyseal Dysplasia 1, Progressive
  • DPD1
  • Progressive Diaphyseal Dysplasia
  • PDD
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

131300

Gene Map Locus

19q13.2

Description

Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
131300.1LebanonUnknown Bone pain; Psychomotor retardation; Poor...NM_000660.7:c.652C>THeterozygousAutosomal, DominantJalkh et al. 2019 Parents from the sam...
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