ORPHA:251290
Parietal foramina with clavicular hypoplasia
Also known as: Parietal foramina with cleidocranial dysplasia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
13
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
133
Distinct authors in sample
Gene link
MSX2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008198
- MeSH:C566825
- OMIM:168550
- UMLS:C1868597
Additional Mondo synonyms (2)
parietal foramina with cleidocranial dysostosis · parietal foramina with cleidocranial dysplasia
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
13 matched papers (9 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?
13
13 papers have ever been indexed 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.
13 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
133
Distinct author names in 13 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.
- 01Berdal A2 papers · 2022
Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, UMRS 1138 Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Paris-Descartes Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Pierre et Marie Curie-Paris Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Paris-Diderot Paris, France ; Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale MAFACE, Hôpital Rothschild Paris, France.
Papers in Europe PMC - 02Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 03
- 04
- 05Anderson JT1 paper · 2024
Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.
Papers in Europe PMC - 06Asselin A1 paper · 2022
Université de Paris, Dental Faculty, Department of Oral Biology, Paris, France.
Papers in Europe PMC - 07Axt-Fliedner R1 paper · 2026
Department of Prenatal Medicine and Fetal Therapy, Justus-Liebig University Giessen, Giessen, Germany.
Papers in Europe PMC - 08Babajko S1 paper · 2014
Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Institut National de la Santé et de la Recherche Médicale, UMRS 1138 Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Paris-Descartes Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Pierre et Marie Curie-Paris Paris, France ; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, Université Paris-Diderot Paris, France.
Papers in Europe PMC - 09Bedei I1 paper · 2026
Department of Prenatal Medicine and Fetal Therapy, Justus-Liebig University Giessen, Giessen, Germany.
Papers in Europe PMC - 10Berner D1 paper · 2026
Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, Munich, Germany.
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.
"Parietal foramina with clavicular hypoplasia" OR "Parietal foramina with cleidocranial dysplasia" OR "parietal foramina with cleidocranial dysostosis"
MeSH descriptor terms unioned into the query: Parietal Foramina With Cleidocranial Dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Parietal foramina with clavicular hypoplasia" OR "Parietal foramina with cleidocranial dysplasia" OR "parietal foramina with cleidocranial dysostosis" 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: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
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 2026-07-27T10:43:53.072Z