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Cole-Carpenter syndrome

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

Summary

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia that is characterized by features of osteogenesis imperfecta (see this term) 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 such as marked frontal bossing, midface hypoplasia, and micrognathia.


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