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).

Also known as: bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome, Cole Carpenter syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Cole-Carpenter syndrome itself.