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Cole-Carpenter syndrome

ORPHA2050
Synonym(s) Bone fragility - craniosynostosis - proptosis - hydrocephalus
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Neonatal
ICD-10
  • Q78.0
OMIM
UMLS
  • C1862178
MeSH
  • C535963
MedDRA -

Summary

Cole-Carpenter syndrome is a very rare syndrome that manifests with bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. It represents a form of congenital brittle bones resembling osteogenesis imperfecta. Originally, the syndrome was described by Cole and Carpenter (1987) in two unrelated infants with bone deformities and multiple fractures, and unimpaired intellectual development despite the orbital craniosynostosis and hydrocephalus. Recurrent diaphyseal fractures of the weight-bearing bones occurred in the first year of life. At adult age, the patients where wheelchair-bound with very short stature, severe bone involvement and normal intellectual and neurological development. Till now, no mutation has been identified as causing this syndrome. Collagen analysis in one recently described case was normal.


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