Cole Carpenter syndrome
Alternate names[edit | edit source]
Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
Definition[edit | edit source]
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[edit source]
Cole Carpenter syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
