Cole-Carpenter syndrome

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Synonyms: Bone fragility-craniosynostosis-proptosis-hydrocephalus 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Cole-Carpenter syndrome?

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