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ORPHA:2753

Orofaciodigital syndrome type 4

medium confidenceDisorder

Also known as: Baraitser-Burn syndrome · Mohr-Majewski syndrome · OFD4 · Oral-facial-digital syndrome type 4

Publications

337

70.8th percentile

Trials

0

Interventional, condition-specific

Researchers

314

Distinct authors in sample

Gene link

TCTN3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.

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 (4)

oral-facial-digital syndrome type 4 · orofaciodigital syndrome IV · orofaciodigital syndrome type 4 · orofaciodigital syndrome type IV

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 — TCTN3

  2. LiteraturePresent

    337 matched papers (235 in last 10 years) Source

  3. Phenotype characterisedPresent

    91 HPO annotations (e.g. Cleft palate; Toe syndactyly; Cerebral atrophy) 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 (TCTN3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

91

Associated phenotypes · MONDO:0009794

  • Cleft palate
  • Toe syndactyly
  • Cerebral atrophy
  • Short stature
  • Accessory oral frenulum

Showing 5 of 91 — 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?

337

337 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.

337 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).

235 in the last 10 years · medium confidence · 70.8th percentile (publications denominator)

Phrase hits: 51 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

314

Distinct author names in 51 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
    Cormier-Daire V4 papers · 2023

    Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.

    Papers in Europe PMC
  2. 02
    Krakow D4 papers · 2023

    Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

    Papers in Europe PMC
  3. 03
    Cohn DH3 papers · 2023

    Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

    Papers in Europe PMC
  4. 04
    Gleeson JG3 papers · 2016

    Laboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA Department of Neurosciences, University of California San Diego (UCSD), La Jolla, California, USA Neurogenetics Laboratory, Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

    Papers in Europe PMC
  5. 05
    Moerman P3 papers · 2016

    Department of Pathology, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC
  6. 06
    Al-Gazali L2 papers · 2016

    Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, United Arab Emirates.

    Papers in Europe PMC
  7. 07
    Alby C2 papers · 2015

    INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.

    Papers in Europe PMC
  8. 08
    Attié-Bitach T2 papers · 2015

    INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.

    Papers in Europe PMC
  9. 09
    Bamshad M2 papers · 2017

    University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington, 98195, USA.

    Papers in Europe PMC
  10. 10
    Bessières B2 papers · 2015

    Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.

    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 4 — 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 4" OR "Baraitser-Burn syndrome" OR "Mohr-Majewski syndrome" OR "Oral-facial-digital syndrome type 4" OR "orofaciodigital syndrome IV" OR "orofaciodigital syndrome type IV") OR ("TCTN3" OR "TCTN3 syndrome" OR "TCTN3-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 4" OR "Baraitser-Burn syndrome" OR "Mohr-Majewski syndrome" OR "Oral-facial-digital syndrome type 4" OR "orofaciodigital syndrome IV" OR "orofaciodigital syndrome type IV"

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: OFD4

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 2026-07-26T21:04:24.351Z