ORPHA:434179
Orofaciodigital syndrome type 14
Also known as: Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14 · Oral-facial-digital syndrome type 14
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
89
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
554
Distinct authors in sample
Gene link
C2CD3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental disorder of the ciliopathy group characterized by oral, facial and digital malformations associated with microcephaly and cerebral malformations such as corpus callosum agenesis and vermis hypoplasia with molar tooth sign. Oral manifestations include gingival frenulae, lingual hamartomas, cleft/lobulated tongue and a cleft palate. Facial features can include telecanthus and an upslanting palpebral fissures. Digital malformations encompass hands postaxial polydactyly and duplication of the hallux.
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:0014413
- OMIM:615948
- UMLS:C4706604
Additional Mondo synonyms (5)
C2CD3 orofaciodigital syndrome · microcephaly-cerebral malformation-orofaciodigital syndrome · oral-facial-digital syndrome type 14 · orofaciodigital syndrome caused by mutation in C2CD3 · orofaciodigital syndrome type 14
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
Definitive — C2CD3
- LiteraturePresent
89 matched papers (58 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 (C2CD3).
GenCC classification: Definitive.
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?
89
89 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.
89 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).
58 in the last 10 years · high confidence · 56.2th percentile (publications denominator)
Phrase hits: 89 · MeSH hits: 0
Who's working on it?
554
Distinct author names in 89 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.
- 01Brugmann SA9 papers · 2024
Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA samantha.brugmann@cchmc.org.
Papers in Europe PMC - 02Bonatto Paese CL4 papers · 2024
Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Papers in Europe PMC - 03Brooks EC4 papers · 2024
Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Papers in Europe PMC - 04Wang J4 papers · 2020
State Key Laboratory of Oncology in South China, Department of Neurosurgery/Neuro-Oncology at The Cancer Center of Sun Yat-sen University, Collaborative Innovation Center of Oncology, Guangzhou 510060, China.
Papers in Europe PMC - 05Aarnio-Peterson M3 papers · 2024
Division of Developmental Biology, Department of Pediatrics Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Papers in Europe PMC - 06Chang CF3 papers · 2022
Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Papers in Europe PMC - 07Zhang L3 papers · 2025
Department of Neurology, The Second Affiliated Hospital of Chengdu College, Nuclear Industry 416 Hospital, Chengdu, 610021, People's Republic of China.
Papers in Europe PMC - 08Attié-Bitach T2 papers · 2014
1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 09Baehr W2 papers · 2022
Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences, Salt Lake City, UT, 84132, USA. Electronic address: wbaehr@hsc.utah.edu.
Papers in Europe PMC - 10Bor-Seng-Shu E2 papers · 2013
Division of Neurological Surgery, Hospital das Clinicas, University of Sao Paulo, School of Medicine, 255 Eneas Aguiar Street, Office 4079, 05403010 Sao Paulo, SP, Brazil.
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.
high 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 14" OR "Microcephaly-cerebral malformation-orofaciodigital syndrome" OR "OFD14" OR "Oral-facial-digital syndrome type 14" OR "C2CD3 orofaciodigital syndrome" OR "orofaciodigital syndrome caused by mutation in C2CD3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Orofaciodigital syndrome type 14" OR "Microcephaly-cerebral malformation-orofaciodigital syndrome" OR "OFD14" OR "Oral-facial-digital syndrome type 14" OR "C2CD3 orofaciodigital syndrome" OR "orofaciodigital syndrome caused by mutation in C2CD3" OR "C2CD3"
Recall-expansion terms: C2CD3
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
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 2026-07-27T16:00:22.776Z