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Cole-Carpenter syndrome

Disease definition

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).


Classification level: Disorder
  • Synonym(s):
    • Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.0
  • OMIM: 112240  616294
  • UMLS: C1862178
  • MeSH: C535963
  • GARD: 1425
  • MedDRA: -
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