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 April 2024
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Cole-Carpenter syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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