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ORPHA:508501

Orofaciodigital syndrome type 18

low confidenceDisorder

Also known as: OFD18 · Oral-facial-digital syndrome type 18 · Oral-facial-digital syndrome with short stature and brachymesophalangy

Publications

643

Trials

0

Interventional, condition-specific

Researchers

140

Distinct authors in sample

Gene link

IFT57

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental disorder of the ciliopathy group characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.

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)

Ofds 18 · oral-facial-digital syndrome type 18 · oral-facial-digital syndrome with short stature and brachymesophalangy · orofaciodigital syndrome type 18

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

    Limited — IFT57

  2. LiteraturePresent

    643 matched papers (374 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Upslanted palpebral fissure; Square face; Short stature) 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?

Possibly — only limited evidence so far for IFT57.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0034823

  • Upslanted palpebral fissure
  • Square face
  • Short stature
  • Urinary incontinence
  • Small forehead

Showing 5 of 21 — 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?

643

643 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

643 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).

374 in the last 10 years · low confidence

Phrase hits: 10 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

140

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.

  1. 01
    Hanjaya C2 papers · 2021

    Department of International Business Engineering, Petra Christian University, Siwalankerto No.121-131, Surabaya 60236, Indonesia; (H.T.); (M.M.); (C.H.)

    Papers in Europe PMC
  2. 02
    Mariyanto M2 papers · 2021

    Department of International Business Engineering, Petra Christian University, Siwalankerto No.121-131, Surabaya 60236, Indonesia; (H.T.); (M.M.); (C.H.)

    Papers in Europe PMC
  3. 03
    Tanto H2 papers · 2021

    Department of International Business Engineering, Petra Christian University, Siwalankerto No.121-131, Surabaya 60236, Indonesia; (H.T.); (M.M.); (C.H.)

    Papers in Europe PMC
  4. 04
    Aftimos S1 paper · 2010
    Papers in Europe PMC
  5. 05
    Ahmed K1 paper · 2025

    Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.

    Papers in Europe PMC
  6. 06
    Aleck KA1 paper · 2010
    Papers in Europe PMC
  7. 07
    Altman DG1 paper · 2016

    Center for Statistics in Medicine, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  8. 08
    Amor D1 paper · 2010
    Papers in Europe PMC
  9. 09
    Baktashian M1 paper · 2017

    Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

    Papers in Europe PMC
  10. 10
    Barros FC1 paper · 2016

    Programa de Pós-Graduação em Saúde e Comportamento, Universidade Católica de Pelotas, Pelotas, RS, 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.

low 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 18 — 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 18" OR "OFD18" OR "Oral-facial-digital syndrome type 18" OR "Oral-facial-digital syndrome with short stature and brachymesophalangy" OR "Ofds 18") OR ("IFT57" OR "IFT57 syndrome" OR "IFT57-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 18" OR "OFD18" OR "Oral-facial-digital syndrome type 18" OR "Oral-facial-digital syndrome with short stature and brachymesophalangy" OR "Ofds 18"

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 (643) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:56:46.749Z