ORPHA:2919
Orofaciodigital syndrome type 5
Also known as: OFD5 · Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type · Polydactyly postaxial with median cleft of upper lip · Thurston syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
147
67th percentile
Trials
0
Interventional, condition-specific
Researchers
910
Distinct authors in sample
Gene link
DDX59
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly of hands and feet and median cleft of the upper lip. Oral manifestations may be present and can include bifid uvula, duplicated frenulum, enamel hypoplasia and tooth number abnormalities. Some cases might present with .
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:0008267
- MeSH:C557819
- OMIM:174300
- UMLS:C1868118
Additional Mondo synonyms (6)
oral-facial-digital syndrome type 5 · orofaciodigital syndrome V · orofaciodigital syndrome type 5 · orofaciodigital syndrome type V · orofaciodigital syndrome, Thurston type · polydactyly postaxial with median cleft of upper lip
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — DDX59
- LiteraturePresent
147 matched papers (104 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?
Yes — we know a specific gene responsible (DDX59).
GenCC classification: Strong.
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?
147
147 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.
147 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).
104 in the last 10 years · medium confidence · 67th percentile (publications denominator)
Phrase hits: 147 · MeSH hits: 0
Who's working on it?
910
Distinct author names in 147 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.
- 01Ronco C7 papers · 2017
Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Via Rodolfi 37, 36100 Vicenza, Italy.
Papers in Europe PMC - 02Brocca A4 papers · 2017
Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Via Rodolfi 37, 36100 Vicenza, Italy ; Department of Medicine DIMED, University of Padova Medical School, Via Giustiniani 2, 35100 Padova, Italy ; Laboratory of Experimental Hepatology, Department of Medicine, University of Padova, Via Giustiniani 2, 35100 Padova, Italy.
Papers in Europe PMC - 03Clementi A3 papers · 2017
IRRIV-International Renal Research Institute Vicenza, Vicenza, Italy.
Papers in Europe PMC - 04de Cal M3 papers · 2016
Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Via Rodolfi 37, 36100 Vicenza, Italy.
Papers in Europe PMC - 05Ma S3 papers · 2024
Department of Cardiology, State Key Laboratory of Organ Failure Research, Guangdong Provincial Key Laboratory of Shock and Microcirculation, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 06McCullough PA3 papers · 2018
Baylor University Medical Center, Baylor Heart and Vascular Institute, Dallas, Texas, USA.
Papers in Europe PMC - 07Virzì GM3 papers · 2017
Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Via Rodolfi 37, 36100 Vicenza, Italy.
Papers in Europe PMC - 08Wang X3 papers · 2025
Department of Oto-Rhino-Laryngology, West China Hospital of Sichuan University, Chengdu, Sichuan, 610000, People's Republic of China.
Papers in Europe PMC - 09Yang J3 papers · 2024
Department of Nephrology, Daping Hospital, Army Medical University, Chongqing, China.
Papers in Europe PMC - 10Barakat A2 papers · 2021
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
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.
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.
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.
"Orofaciodigital syndrome type 5" OR "Oral-facial-digital syndrome type 5" OR "Orofaciodigital syndrome, Thurston type" OR "Polydactyly postaxial with median cleft of upper lip" OR "Polydactyly postaxial with median cleft of the upper lip" OR "Thurston syndrome" OR "orofaciodigital syndrome V" OR "orofaciodigital syndrome type V"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Orofaciodigital syndrome type 5" OR "Oral-facial-digital syndrome type 5" OR "Orofaciodigital syndrome, Thurston type" OR "Polydactyly postaxial with median cleft of upper lip" OR "Polydactyly postaxial with median cleft of the upper lip" OR "Thurston syndrome" OR "orofaciodigital syndrome V" OR "orofaciodigital syndrome type V" OR "DDX59"
Recall-expansion terms: DDX59
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: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OFD5
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 2026-07-26T21:40:39.861Z