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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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