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GTR Home > Conditions/Phenotypes > Craniosynostosis 4

Craniosynostosis 4

Synonyms
Lambdoid synostosis; Lambdoidal craniosynostosis

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-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHYTS, CRS4, PE-2, PE2, ERF
    Summary: ETS2 repressor factor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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