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Definition

A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.

Acronym

CLCRP1

Synonyms

Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Keywords

Craniosynostosis
Osteogenesis imperfecta

 
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