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 {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). [ https://omim.org/entry/617439 ]
Synonyms: craniosynostosis 7, susceptibility to craniosynostosis 7
Term information
- OMIM:617439 (MONDO:equivalentTo)
- MEDGEN:1392447 (MONDO:equivalentTo)
- UMLS:C4479496 (MONDO:equivalentTo)
- DOID:0060912 (MONDO:equivalentTo)
http://identifiers.org/medgen/1392447
https://omim.org/entry/617439
http://purl.obolibrary.org/obo/DOID_0060912
http://linkedlifedata.com/resource/umls/id/C4479496
https://github.com/monarch-initiative/mondo/issues/4882
https://github.com/monarch-initiative/mondo/issues/4521