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Cole Carpenter syndrome

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Alternate names

Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

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).

NIH genetic and rare disease info

Cole Carpenter syndrome is a rare disease.


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Latest research (Pubmed)

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