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GTR Home > Conditions/Phenotypes > TCF12-related craniosynostosis

TCF12-related craniosynostosis

Synonyms
Craniosynostosis 3

Summary

Craniosynostosis (CRS) 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). Craniosynostosis-3 (CRS3) includes coronal, sagittal, and multisuture forms (Sharma et al., 2013). For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRS3, HEB, HH26, HTF4, HsT17266, TCF-12, bHLHb20, p64, TCF12
    Summary: transcription factor 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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