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Cole-Carpenter syndrome

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
  • Q78.0
  • C1862178
  • C535963
MedDRA -


Disease definition

Cole-Carpenter syndrome is 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).

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