Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Cole-Carpenter syndrome

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


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.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.