ORPHA:2464
Marfanoid syndrome, De Silva type
Publications
9
8th percentile
Trials
0
Interventional, condition-specific
Researchers
49
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic intestinal characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.
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:0009120
- MeSH:C565619
- OMIM:223330
- UMLS:C1857227
Additional Mondo synonyms (2)
diverticulosis of bowel, hernia, and retinal detachment · marfanoid syndrome, De Silva type
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
9 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
9
9 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=3967) is 59.
9 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
49
Distinct author names in 9 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.
- 01Asano T1 paper · 1989Papers in Europe PMC
- 02Atale A1 paper · 2009
Service de Pédiatrie 1, Hôpital d'Enfants, Dijon Cedex, France.
Papers in Europe PMC - 03Beyer T1 paper · 1993Papers in Europe PMC
- 04Bironneau A1 paper · 2014
Reproductive Biology Laboratory - CECOS, Rouen University Hospital, Rouen, F-76031 France ; EA 4308 "Gametogenesis and Gamete Quality", IRIBHN, University of Rouen, Rouen, F-76000 France.
Papers in Europe PMC - 05Bonneau-Amati P1 paper · 2009Papers in Europe PMC
- 06Bonnin JS1 paper · 1982Papers in Europe PMC
- 07Brachmann J1 paper · 1993
Medical University Hospital, Department of Cardiology, Heidelberg, Germany.
Papers in Europe PMC - 08Cabedo SM1 paper · 1982Papers in Europe PMC
- 09Civera RG1 paper · 1982Papers in Europe PMC
- 10de Lonlay P1 paper · 2009Papers 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 13 · after dedupe 13 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 13 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (13)
- ctis·2025-523482-23-00·Authorised·PITALC. Pilot study on the effect of PITAC (Pressurized IntraThoracic Aerosol Chemotherapy) by videothoracoscopy in patients with malignant pleural effusion in the light of the results of a retrospective historical cohort treated with talc pleurodesis by videothoracoscopy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522410-23-00·Authorised·Botulinum toxin in open abdomen closure. A multicentric randomized controlled single-blind clinical trial to evaluate the efficacy of early administration of botulinum toxin for primary midline closure in patients with an open abdomen.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522451-25-00·Authorised, ongoing·PROBHE: Prehabilitation with Botulinum Toxin A in complex hernia: an Italian prospective study on predictive scores of myofascial release.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515759-39-00·Authorised, ongoing·Does placement of a TAP block in patients undergoing laparoscopic inguinal hernia repair have a more efficacious analgesic effect than local infiltration at the surgical site: a randomized controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513406-59-00·Authorised, ongoing·PRO_RSTAP study: Effect of medial transversus abdominis plane (TAP) block and rectus sheath block on inguinal hernia surgery recovery, a prospective randomized double-blind study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518179-76-00·Cancelled·Randomized, multi-center, double-blind, two-armed, parallel active groups, prospective trial, to evaluate, in pediatric population undergoing 'Calcaneo stop' surgery or Inguinal hernia repair, the efficacy and safety of chloroprocaine 1% and 2% for peripheral nerve block based on concentration-response relationships.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517391-38-00·Authorised, ongoing·SIROLIMUS VERSUS MYCOPHENOLATE MOFETIL IN SIMULTANEOUS PANCREAS AND KIDNEY TRANSPLANTATION TO EVALUATE THE RISK OF HERNIA
skipped — LLM skipped (--skip-llm)
- ctis·2023-507429-41-00·Authorised, ongoing·Multicenter, randomized, double-blind, controlled clinical trial to evaluate the safety and efficacy of PRGF-Endoret® infiltrations in the treatment of low back pain
skipped — LLM skipped (--skip-llm)
- ctis·2024-513582-39-01·Authorised, ongoing·Preincisional versus postincisional ultrasound-guided transversus abdominis plane (TAP) block comparative effect on chronic postsurgical pain in patients undergoing open inguinal hernia mesh repair
skipped — LLM skipped (--skip-llm)
- ctis·2024-511010-21-00·Authorised, ongoing·(PREVENT)A Randomized, Double-blind, Placebo-controlled Trial on the Prevention of Chronic Postoperative Pain after Inguinal Hernia and Knee Surgery by Postoperative Treatment with Tapentadol
skipped — LLM skipped (--skip-llm)
- ctis·2023-504554-35-00·Authorised, ongoing·Surgical treatment of large incisional hernia with botulinum toxin A injection: a double-blind randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2023-507319-36-00·Authorised·Is antibiotic prophylaxis necessary in inguinal or femoral hernia repair for the prevention of surgical site infection in our environment?
skipped — LLM skipped (--skip-llm)
- ctis·2023-505860-12-00·Authorised, ongoing·Efficacy of perioperative duloxetine in patients at high risk for developing chronic postsurgical pain after inguinal hernia repair: a multicenter randomized controlled trial
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Marfanoid syndrome, De Silva type — check Associations / patient organisations on that page.
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.
"Marfanoid syndrome, De Silva type" OR "diverticulosis of bowel, hernia, and retinal detachment" OR "diverticulosis of the bowel, hernia, and retinal detachment"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marfanoid syndrome, De Silva type" OR "diverticulosis of bowel, hernia, and retinal detachment" OR "diverticulosis of the bowel, hernia, and retinal detachment"
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 2026-07-26T20:14:16.365Z