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Enlarged parietal foramina

Disease 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.

ORPHA:60015

  • Synonym(s):
    • Catlin marks
    • Fenestrae parietales symmetricae
    • Foramina parietalia permagna
    • Hereditary cranium bifidum
    • Symmetric parietal foramina
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q75.8
  • OMIM: 168500  609566  609597
  • UMLS: C1868598
  • MeSH: -
  • GARD: -
  • MedDRA: -

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