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GTR Home > Conditions/Phenotypes > Cole-Carpenter syndrome 2

Cole-Carpenter syndrome 2

Summary

Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by Takeyari et al., 2018). [from OMIM]

Available tests

29 tests are in the database for this condition.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLCRP2, SEC24D
    Summary: SEC24 homolog D, COPII coat complex component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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