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ORPHA:434179

Orofaciodigital syndrome type 14

medium confidenceDisorder

Also known as: Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14 · Oral-facial-digital syndrome type 14

Publications

438

77.8th percentile

Trials

0

Interventional, condition-specific

Researchers

554

Distinct authors in sample

Gene link

C2CD3

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — C2CD3

  2. LiteraturePresent

    438 matched papers (333 in last 10 years) Source

  3. Phenotype characterisedPresent

    89 HPO annotations (e.g. Epispadias; Cleft palate; Trigonocephaly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

89

Associated phenotypes · MONDO:0014413

  • Epispadias
  • Cleft palate
  • Trigonocephaly
  • Microretrognathia
  • Postaxial hand polydactyly

Showing 5 of 89 — 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?

438

438 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=3967) is 59.

438 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).

333 in the last 10 years · medium confidence · 77.8th percentile (publications denominator)

Phrase hits: 89 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Brugmann 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
  2. 02
    Bonatto Paese CL4 papers · 2024

    Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  3. 03
    Brooks EC4 papers · 2024

    Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  4. 04
    Wang 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
  5. 05
    Aarnio-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
  6. 06
    Chang 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
  7. 07
    Zhang 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
  8. 08
    Attié-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
  9. 09
    Baehr 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
  10. 10
    Bor-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 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 2026-07-30

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 14 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("C2CD3" OR "C2CD3 syndrome" OR "C2CD3-related")

Run this search on Europe PMC

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"

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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (438) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T16:00:22.776Z