ORPHA:319192
Diencephalic-mesencephalic junction dysplasia
Publications
47
50.8th percentile
Trials
0
Interventional, condition-specific
Researchers
458
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Diencephalic-mesencephalic junction is a rare, genetic, non-syndromic cerebral characterized by severe , postnatal microcephaly, axial , spastic quadriparesis, and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive , persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem and cerebellar vermis hypoplasia have also been described.
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:0017868
- UMLS:C4707858
Additional Mondo synonyms (1)
diencephalic-mesencephalic junction dysplasia syndrome
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
47 matched papers (43 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
47
47 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.
47 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).
43 in the last 10 years · high confidence · 50.8th percentile (publications denominator)
Phrase hits: 47 · MeSH hits: 0
Who's working on it?
458
Distinct author names in 47 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.
- 01Righini A5 papers · 2026
Department of Paediatric Radiology and Neuroradiology (A.R., G.I., C.D., C.P.), Ospedale dei Bambini "V. Buzzi," Milan, Italy.
Papers in Europe PMC - 02Gleeson JG4 papers · 2024
Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@ucsd.edu.
Papers in Europe PMC - 03Mankad K4 papers · 2026
Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N3JH, UK.
Papers in Europe PMC - 04Parazzini C4 papers · 2026
Department of Paediatric Radiology and Neuroradiology (A.R., G.I., C.D., C.P.), Ospedale dei Bambini "V. Buzzi," Milan, Italy.
Papers in Europe PMC - 05Severino M4 papers · 2024
Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.
Papers in Europe PMC - 06Whitehead MT4 papers · 2024
Division of Neuroradiology, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 07Zaki MS4 papers · 2024
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.
Papers in Europe PMC - 08Izzo G3 papers · 2026
Department of Paediatric Radiology and Neuroradiology (A.R., G.I., C.D., C.P.), Ospedale dei Bambini "V. Buzzi," Milan, Italy.
Papers in Europe PMC - 09Paladini D3 papers · 2023
Fetal Medicine and Surgery Unit (D.P.), Istituto Giannina Gaslini, Genoa, Italy.
Papers in Europe PMC - 10Rossi A3 papers · 2023
From the Neuroradiology Unit (M.S., D.T., G.M., A. Rossi).
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.
"Diencephalic-mesencephalic junction dysplasia" OR "diencephalic-mesencephalic junction dysplasia syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Diencephalic-mesencephalic junction dysplasia" OR "diencephalic-mesencephalic junction dysplasia syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 2026-07-27T13:18:00.558Z