ORPHA:727881
Medullary tegmental cap dysplasia
Also known as: MTCD
Publications
4
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
42
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome with a brainstem as a major feature characterized by an abnormal mass, also called cap, of different shape and size, protruding from the posterior medullary surface. Patients may present a variable ranging from normal neurodevelopment to profound , as well as variable neurologic manifestations such as , strabismus, nystagmus, absent eye contact and hyperkinetic movements. Sometimes, extracerebral anomalies are observed such as cutaneous lesions, respiratory problems, hematologic and hepatic disorders.
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.
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
4 matched papers (4 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?
4
4 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.
4 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).
4 in the last 10 years · medium confidence · 17.7th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
42
Distinct author names in 4 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.
- 01Huisman TAGM2 papers · 2024
Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 02Lerman-Sagie T2 papers · 2024
Multidisciplinary foetal Neurology Center, Obstetrics & Gynecology Ultrasound Unit, Obstetrics and Gynecology Department, Wolfson Medical Center, Holon 5822012, Israel.
Papers in Europe PMC - 03Oegema R2 papers · 2024
Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, The Netherlands.
Papers in Europe PMC - 04Aggarwal P1 paper · 2025Papers in Europe PMC
- 05Arad A1 paper · 2023
Department of Pathology (A.A.), Bnai-Zion Medical Center, Haifa, Israel.
Papers in Europe PMC - 06Bahi-Buisson N1 paper · 2024
Pediatric Neurology, Necker Enfants Malades, University Hospital Imagine Institute, 75015 Paris, France.
Papers in Europe PMC - 07Barkovich JA1 paper · 2024
Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA 94143, USA.
Papers in Europe PMC - 08Boltshauser E1 paper · 2023
Pediatric Neurology (Emeritus) (E. Boltshauser), Children's University Hospital, Zürich, Switzerland.
Papers in Europe PMC - 09Bueltmann E1 paper · 2023
Institute of Diagnostic und Interventional Neuroradiology (E. Bueltmann), Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 10Burglen L1 paper · 2023
Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
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.
medium 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.
"Medullary tegmental cap dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Medullary tegmental cap dysplasia"
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
Synonyms dropped by stoplist: MTCD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T21:28:27.968Z