Cole-Carpenter syndrome

What is Cole-Carpenter syndrome?

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).

Other condition names

  • Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Inheritance type

Autosomal dominant, Autosomal recessive, Not applicable


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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