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GTR Home > Conditions/Phenotypes > Craniosynostosis 7

Summary

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

Available tests

7 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: AOVD2, HsT17432, MADH6, MADH7, SMAD6
    Summary: SMAD family member 6

Clinical features

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