ORPHA:2752
Orofaciodigital syndrome type 3
Also known as: OFD3 · Oral-facial-digital syndrome type 3 · Sugarman syndrome
Publications
10
18.9th percentile
Trials
0
Interventional, condition-specific
Researchers
76
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009793
- MeSH:C557817
- OMIM:258850
- UMLS:C0406726
Additional Mondo synonyms (3)
oral-facial-digital syndrome type 3 · orofaciodigital syndrome III · orofaciodigital syndrome type III
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
10 matched papers (4 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Bulbous nose; Short sternum; Low-set ears) 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)
16
Associated phenotypes · MONDO:0009793
- Bulbous nose
- Short sternum
- Low-set ears
- Intellectual disability
- Hyperconvex nail
Showing 5 of 16 — 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?
10
10 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.
10 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).
4 in the last 10 years · medium confidence · 18.9th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
76
Distinct author names in 10 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.
- 01Agarwal A1 paper · 2024
Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Papers in Europe PMC - 02Ahluwalia AS1 paper · 2015
Assistant Professor, Department of Conservative Dentistry and Endodontics, Vyas Dental College , Jodhpur, Rajasthan, India .
Papers in Europe PMC - 03Ashley-Koch A1 paper · 2015
Center for Human Disease Modeling, Department of Medicine, and Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 22710 Center for Human Disease Modeling, Department of Medicine, and Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 22710.
Papers in Europe PMC - 04Attié-Bitach T1 paper · 2015
Institut National de la Santé et de la Recherche Médicale UMR1163, 75015 Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique/Hôpitaux de Paris, 75015 Paris, France.
Papers in Europe PMC - 05
- 06Bargale SD1 paper · 2011
Department of Pedodontics and Preventive Dentistry, AECS Maruthi Dental College and Research Center, India. drseemabargale@gmail.com
Papers in Europe PMC - 07Bhat NK1 paper · 2023
Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Papers in Europe PMC - 08Chander S1 paper · 2015
Reader, Department of Conservative Dentistry and Endodontics, Vyas Dental College , Jodhpur, Rajasthan, India .
Papers in Europe PMC - 09Chinna H1 paper · 2015
Post Graduate Student, Department of Conservative Dentistry and Endodontics, Vyas Dental College , Jodhpur, Rajasthan, India .
Papers in Europe PMC - 10Cope H1 paper · 2015
Center for Human Disease Modeling, Department of Medicine, and Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 22710.
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.
medium 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.
Broader category orofaciodigital syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: orofaciodigital syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Orofaciodigital syndrome type 3 — 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.
"Orofaciodigital syndrome type 3" OR "Oral-facial-digital syndrome type 3" OR "Sugarman syndrome" OR "orofaciodigital syndrome III" OR "orofaciodigital syndrome type III"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Orofaciodigital syndrome type 3" OR "Oral-facial-digital syndrome type 3" OR "Sugarman syndrome" OR "orofaciodigital syndrome III" OR "orofaciodigital syndrome type III"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"orofaciodigital syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OFD3
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 2026-07-26T21:04:05.410Z