Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

metopic craniosynostosis
Synonyms

interfrontal craniofaciosynostosis

metopic synostosis

Definitions

Metopic craniosynostosis is the early fusion of the forehead (frontal) bones. It accounts for 5%–15% of all craniosynostosis cases. This premature fusion of the frontal bones results in a characteristically altered skull shape, termed trigonocephaly, that usually requires surgical correction.

ID

http://www.ebi.ac.uk/efo/EFO_0008511

database_cross_reference

SNOMEDCT:109409003

definition

Metopic craniosynostosis is the early fusion of the forehead (frontal) bones. It accounts for 5%–15% of all craniosynostosis cases. This premature fusion of the frontal bones results in a characteristically altered skull shape, termed trigonocephaly, that usually requires surgical correction.

definition_citation

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413823/

gwas_trait

true

has_exact_synonym

interfrontal craniofaciosynostosis

metopic synostosis

label

metopic craniosynostosis

preferred label

metopic craniosynostosis

prefixIRI

efo:EFO_0008511

prefLabel

metopic craniosynostosis

term editor

Laura Huerta

subClassOf

http://www.orpha.net/ORDO/Orphanet_183524

http://www.orpha.net/ORDO/Orphanet_183542

http://www.orpha.net/ORDO/Orphanet_404584

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