| Term Name: | Cole-Carpenter syndrome |
|---|---|
| Synonyms: | |
| Definition: | An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. |
| Ontology: | Human Disease [DOID:0060438] ( DOID:0060438 ) |