ORPHA:60015
Enlarged parietal foramina
Also known as: Catlin marks · Fenestrae parietales symmetricae · Foramina parietalia permagna · Hereditary cranium bifidum · Symmetric parietal foramina
Publications
436
71.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,095
Distinct authors in sample
Gene link
MSX2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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, ) or associated with other pathologies.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (7)
catlin marks · enlarged parietal foramina · fenestrae parietales symmetricae · foramina parietalia permagna · hereditary cranium bifidum · parietal foramina · symmetric parietal foramina
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — MSX2
- LiteraturePresent
436 matched papers (136 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MSX2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
436
436 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
436 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
136 in the last 10 years · high confidence · 71.9th percentile (publications denominator)
Phrase hits: 436 · MeSH hits: 19
Who's working on it?
1,095
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Wuyts W8 papers · 2007
Department of Medical Genetics, University of Antwerp, Belgium. wwuyts@uia.ua.ac.be
Papers in Europe PMC - 02Mavrogiannis LA6 papers · 2006
Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK.
Papers in Europe PMC - 03Van Hul W6 papers · 2005Papers in Europe PMC
- 04Wilkie AO5 papers · 2016
Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 05Cunningham ML4 papers · 2023
Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: michael.cunningham@seattlechildrens.org.
Papers in Europe PMC - 06Kim HG4 papers · 2025
Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Georgia Regents University, Augusta, Georgia.
Papers in Europe PMC - 07Tubbs RS4 papers · 2026
Pediatric Neurosurgery, Children's Hospital, and Department of Cell Biology, University of Alabama at Birmingham, 35233, USA.
Papers in Europe PMC - 08Altunoglu U3 papers · 2016
Istanbul Medical Faculty, Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
Papers in Europe PMC - 09Bartsch O3 papers · 2012
Department of Clinical Genetics, University Hospital Dresden, Germany.
Papers in Europe PMC - 10Chitayat D3 papers · 2025
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, ON, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Enlarged parietal foramina" OR "Catlin marks" OR "Fenestrae parietales symmetricae" OR "Foramina parietalia permagna" OR "Hereditary cranium bifidum" OR "Symmetric parietal foramina" OR "parietal foramina"
MeSH descriptor terms unioned into the query: Parietal Foramina
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Enlarged parietal foramina" OR "Catlin marks" OR "Fenestrae parietales symmetricae" OR "Foramina parietalia permagna" OR "Hereditary cranium bifidum" OR "Symmetric parietal foramina" OR "parietal foramina" OR "MSX2"
Recall-expansion terms: MSX2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:01:52.686Z