Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. [ Orphanet:60015 ]
Synonyms: Caitlin marks hereditary cranium bifidum catlin marks symmetric parietal foramina enlarged parietal foramina parietal foramina fenestrae parietales symmetricae foramina parietalia permagna
Term information
- OMIMPS:168500 (MONDO:equivalentTo)
- MESH:C566826 (MONDO:equivalentTo)
- DOID:0060285 (MONDO:equivalentTo)
- Orphanet:60015 (MONDO:equivalentTo)
- HP:0002697 (MONDO:otherHierarchy)
- SCTID:718099006 (MONDO:equivalentTo)
- GARD:16662 (Orphanet:60015)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://omim.org/phenotypicSeries/PS168500
http://www.orpha.net/ORDO/Orphanet_60015
http://identifiers.org/mesh/C566826
http://identifiers.org/snomedct/718099006
http://purl.obolibrary.org/obo/DOID_0060285