Enlarged parietal foramina

Orpha code: 60015OMIM code: 609597

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Catlin marks
Dziedziczny rozszczep czaszki
Fenestrae parietales symmetricae
Symetryczny otwór ciemieniowy
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
ORPHA code
60015
OMIM code
609597
ICD10 code
Q75.8
ICD11 code
-

No additional description.

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