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ORPHA:2750

Orofaciodigital syndrome type 1

low confidenceDisorder

Also known as: OFD1 · OFDI · OFDSI · Oral-facial-digital syndrome type 1 · Papillon-Léage-Psaume syndrome

Publications

5,989

Trials

0

Interventional, condition-specific

Researchers

1,140

Distinct authors in sample

Gene link

OFD1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodevelopmental disorder in the ciliopathy group characterized by variable anomalies in affected females including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and viscera (kidneys, pancreas and ovaries). In males, it is mostly lethal, typically during the first or second trimester of pregnancy.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

OFD syndrome 1 · OFDS 1 · Papillon-Leage and Psaume syndrome · Papillon-league-Psaume syndrome (formerly) · oral facial digital syndrome 1 · oral facial digital syndrome type 1 · oral-facial-digital syndrome 1 · oral-facial-digital syndrome type 1 · oral-facial-digital syndrome, type 1 · orofaciodigital syndrome 1 · orofaciodigital syndrome I · orofaciodigital syndrome i, X-linked dominant · orofaciodigital syndrome type 1 · orofaciodigital syndrome type I

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — OFD1

  2. LiteraturePresent

    5,989 matched papers (3,411 in last 10 years) Source

  3. Phenotype characterisedPresent

    124 HPO annotations (e.g. Median cleft upper lip; Agenesis of corpus callosum; Arachnoid cyst) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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 (OFD1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

124

Associated phenotypes · MONDO:0010702

  • Median cleft upper lip
  • Agenesis of corpus callosum
  • Arachnoid cyst
  • Clinodactyly
  • High palate

Showing 5 of 124 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

5,989

5,989 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,989 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).

3,411 in the last 10 years · low confidence

Phrase hits: 505 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,140

Distinct author names in 200 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
    Franco B8 papers · 2023

    Telethon Institute of Genetics and Medicine (TIGEM), 80078, Pozzuoli, Italy.

    Papers in Europe PMC
  2. 02
    Feather SA5 papers · 2004

    Molecular Genetics Unit, Institute of Child Health, Royal London Hospital, London.

    Papers in Europe PMC
  3. 03
    Sekine A5 papers · 2025

    Nephrology Center, Toranomon Hospital, Tokyo 105-8470, Japan.

    Papers in Europe PMC
  4. 04
    Ubara Y5 papers · 2025

    Nephrology Center and Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Woolf AS5 papers · 2004

    Nephro-Urology Unit, Room 219, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. a.woolf@ich.ucl.ac.uk

    Papers in Europe PMC
  6. 06
    Li C4 papers · 2025

    Department of Anatomy, Histology and Developmental Biology, School of Basic Medical Sciences, Shenzhen University Health Science Centre, Shenzhen, China.

    Papers in Europe PMC
  7. 07
    Suwabe T4 papers · 2025

    Nephrology Center, Toranomon Hospital, Tokyo 105-8470, Japan.

    Papers in Europe PMC
  8. 08
    Tang Z4 papers · 2026

    Center for Autophagy Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2025

    Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.

    Papers in Europe PMC
  10. 10
    Zhong Q4 papers · 2026

    Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine (SJTU-SM), Shanghai, China. qingzhong@shsmu.edu.cn.

    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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1 — 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 1" OR "OFDSI" OR "Oral-facial-digital syndrome type 1" OR "Papillon-Léage-Psaume syndrome" OR "OFD syndrome 1" OR "OFDS 1" OR "Papillon-Leage and Psaume syndrome" OR "Papillon-league-Psaume syndrome (formerly)" OR "oral facial digital syndrome 1" OR "oral facial digital syndrome type 1" OR "oral-facial-digital syndrome 1" OR "oral-facial-digital syndrome, type 1" OR "orofaciodigital syndrome 1" OR "orofaciodigital syndrome I" OR "orofaciodigital syndrome i, X-linked dominant" OR "orofaciodigital syndrome type I") OR ("OFD1" OR "OFD1 syndrome" OR "OFD1-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 1" OR "OFDSI" OR "Oral-facial-digital syndrome type 1" OR "Papillon-Léage-Psaume syndrome" OR "OFD syndrome 1" OR "OFDS 1" OR "Papillon-Leage and Psaume syndrome" OR "Papillon-league-Psaume syndrome (formerly)" OR "oral facial digital syndrome 1" OR "oral facial digital syndrome type 1" OR "oral-facial-digital syndrome 1" OR "oral-facial-digital syndrome, type 1" OR "orofaciodigital syndrome 1" OR "orofaciodigital syndrome I" OR "orofaciodigital syndrome i, X-linked dominant" OR "orofaciodigital syndrome type I"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OFD1; OFDI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5989) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T21:03:37.205Z