ORPHA:2328
Kapur-Toriello syndrome
Also known as: Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
Publications
13
27th percentile
Trials
0
Interventional, condition-specific
Researchers
143
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by severe , facial dysmorphism (low-set and malformed ears, bulbous nasal tip, low hanging columella, bilateral cleft lip and palate), eye anomalies (microophthalmia, coloboma), intestinal abnormalities and heart defects.
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:0009483
- MeSH:C537008
- OMIM:244300
- UMLS:C0796005
Additional Mondo synonyms (2)
cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome · kapur-Toriello 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.”
2/6 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
13 matched papers (9 in last 10 years) Source
- Phenotype characterisedPresent
58 HPO annotations (e.g. Short neck; Failure to thrive; Atresia of the external auditory canal) Source
- 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)
58
Associated phenotypes · MONDO:0009483
- Short neck
- Failure to thrive
- Atresia of the external auditory canal
- Pachygyria
- Polymicrogyria
Showing 5 of 58 — open Monarch for the full list.
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?
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=3967) is 59.
13 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).
9 in the last 10 years · high confidence · 27th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
143
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.
- 01FitzPatrick D2 papers · 2020
MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Papers in Europe PMC - 02Kelly D2 papers · 2023
Children's Hospital, OUH NHS Foundation Trust, NIHR Oxford BRC, Headley Way, Oxford, OX3 9DU, UK.
Papers in Europe PMC - 03Kini U2 papers · 2023
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
Papers in Europe PMC - 04Moosajee M2 papers · 2020
UCL Institute of Ophthalmology, London, UK. m.moosajee@ucl.ac.uk.
Papers in Europe PMC - 05Ács N1 paper · 2024
Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary.
Papers in Europe PMC - 06Allroggen H1 paper · 2023
Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK.
Papers in Europe PMC - 07Ansorge O1 paper · 2023
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Papers in Europe PMC - 08Babbs C1 paper · 2023
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Papers in Europe PMC - 09Banka S1 paper · 2023
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Papers in Europe PMC - 10Baños-Piñero B1 paper · 2023
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
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 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 60 · after dedupe 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · 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 (58)
- ctis·2026-526105-15-00·Authorised·A multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Efficacy and Safety of Subcutaneous Immunotherapy (Beltavac®) with Polymerized Allergenic Extract of a Mixture of Dermatophagoides and Blomia tropicalis in Patients with Allergic Rhinitis/rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2026-525594-39-00·Authorised·Multicenter, randomized, double-blind, parallel-group clinical study comparing RD03/2016 (levoFloxacin and ketorolac trometAmol) eye drops vs Leviosa® (levofloxacin and dexamethaSone 21-phosphaTe) eye drops for 7 days for the prevention and treatment of inflammation and prevention of infection associated with cataract surgery in adults.
(FAST 7)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525008-12-00·Authorised·An open-label multiple dose safety, tolerability and exploratory efficacy clinical trial of PST-611 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2023-507975-23-01·Authorised·Pain Relief at Screening for Retinopathy of Prematurity - The PROPER study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524894-17-00·Authorised, recruiting·A randomized double-masked, multicenter, 3-arm, pivotal Phase 2/3 study to evaluate the efficacy and safety of intravitreal (IVT) EYE201/MK-8748 compared to aflibercept (2 mg) in participants with neovascular age-related macular degeneration (NVAMD)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525613-31-00·Authorised·Intravenous iron in the management of drug-resistant restless legs syndrome: a randomized controlled delayed-start trial. IRON-RLS
skipped — LLM skipped (--skip-llm)
- ctis·2025-524580-21-00·Expired·A prospective, randomized, double-blind, placebo-controlled, multicentre, dose-finding clinical trial with polymerised mannan-conjugated allergoid Dactylis glomerata/Phleum pratense administered subcutaneously to patients with grass pollen-induced allergic rhinitis or rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521563-13-01·Authorised, ongoing·Safety and efficacy of T10430 eye drops in controlling paediatric myopia progression
skipped — LLM skipped (--skip-llm)
- ctis·2025-523280-38-00·Authorised, ongoing·An Open-Label, Rollover Study for Participants With Thyroid Eye Disease Previously Enrolled in Amgen-Sponsored AMG 732 Studies and are Primary Proptosis Non-responders or who Relapsed During the Safety Follow-up
skipped — LLM skipped (--skip-llm)
- ctis·2025-523443-35-00·Authorised, recruiting·Phase 3, Multicenter, Randomized, Double-Masked, Vehicle-Controlled, Parallel Group Study to Evaluate the Safety and Efficacy of Recombinant Human Nerve Growth Factor Eye Drop Solution in Participants With Persistent Corneal Epithelial Defect (PCED)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523704-77-00·Authorised, ongoing·A randomized, double masked, placebo-controlled, multicenter, dose-range finding study to assess the efficacy and safety of FWY003 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2025-521967-11-00·Authorised·Electrophysiological analysis of Gamma-Hydroxybutyrate-induced sleep in intensive care patients: A Pilot Double-Blind Randomized Controlled Trial.(GAMMA-SLEEP)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503573-38-00·Authorised·Safety of stem cells in treatmemt of retinal diseases.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518120-68-01·Authorised·Prevention of Sexual Offending with Cognitive Behavioral Therapy Alone Versus Therapy Combined with Testosterone Suppression – the PREVENT-MED randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523117-28-00·Authorised, ongoing·A Phase 2, multicenter, open label, non-randomized study to evaluate the efficacy and safety of extended dosing of belantamab mafodotin in different combinations with standard of care regimens in participants with relapsed-refractory multiple myeloma (DREAMM-15)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522207-15-01·Authorised·An Open-label, Multicenter, Two Part, Ascending Dose Followed by a Controlled Trial to Assess the Safety and Efficacy of a Subretinal Administration of AAVB-039 in Participants with Stargardt Disease (STGD1) (CELESTE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522460-33-00·Authorised·An Open-Label, Single-Arm, 3-Year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Subjects with Stargardt Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523937-25-00·Authorised, ongoing·A Phase 3, Multicenter, Prospective, Randomized, Double-Masked, Parallel-Group Study of EYP-1901, a Tyrosine Kinase Inhibitor (TKI), Compared to Aflibercept (2 mg) in Participants with Diabetic Macular Edema (DME) (EYP-1901-303)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525349-65-00·Authorised, recruiting·Open-label, safety, tolerability and proof of concept study to evaluate the use of ANXV (recombinant human Annexin A5 protein) in the treatment of patients with either Diabetic Retinopathy or recent onset Retinal Vein Occlusion
skipped — LLM skipped (--skip-llm)
- ctis·2025-523227-22-00·Authorised·A Therapeutic Non-Inferiority, Randomized, Observer-blind, Active-comparator, Two-arm, Parallel Group, Multi-center Clinical Trial for Comparing the Efficacy and Tolerability of a Generic Fixed Dose Combination of Brimonidine Tartrate 2 mg/ml + Timolol 5 mg/ml Eye Drops versus Combigan® 2 mg/ml + 5 mg/ml Eye Drops in the Treatment of Intraocular Pressure in Patients with Open Angle Glaucoma or Ocular Hypertension
skipped — LLM skipped (--skip-llm)
- ctis·2025-521709-42-00·Authorised, recruiting·Clinical trial to evaluate the efficacy and safety of Depigoid DUO Grass-Mix/Olea (1000 DPP/mL + 1000 DPP/mL) compared with placebo in patients suffering from allergic rhinoconjunctivitis with or without asthma due to clinically relevant sensitisation to grass and olive pollen.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521736-10-00·Authorised, recruiting·Clinical trial to evaluate the efficacy and safety of Depigoid Grass-Mix at 1000 DPP/mL and Depigoid FORTE Grass-Mix at 3000 DPP/mL compared with placebo in patients suffering from allergic rhinoconjunctivitis with or without controlled asthma due to clinically relevant sensitisation to grass pollen.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521758-40-00·Authorised, ongoing·Intravitreal (IVT) Pozelimab for Geographic Atrophy (GA) in Adult Participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-521779-30-00·Authorised·A Phase 2, Randomized, Masked, Placebo-Controlled Study of Subcutaneously Administered ADX-038 in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (AMD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522118-21-00·Authorised·Impact Of Upadacitinib On The Frequency Of Acute Recurrent Anterior Uveitis In Patients With Axial Spondyloarthritis
(UP-FOR-U)
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 Kapur-Toriello syndrome — 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.
"Kapur-Toriello syndrome" OR "Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kapur-Toriello syndrome" OR "Cleft lip/palate-facial, eye, heart and intestinal anomalies 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 2026-07-26T19:52:12.084Z