Cole-Carpenter syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Cole-Carpenter syndrome

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 http: //www.orphadata.org. Data version October 2023.

Newly diagnosed with
Cole-Carpenter syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.