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ORPHA:2750

Orofaciodigital syndrome type 1

medium confidenceDisorder

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

Publications

505

84th percentile

Trials

0

Interventional, condition-specific

Researchers

1,140

Distinct authors in sample

Gene link

OFD1

Definitive

Readiness

2/6

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.”

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.

  1. Gene identifiedPresent

    Definitive — OFD1

  2. LiteraturePresent

    505 matched papers (283 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

505

505 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=5449) is 41.

505 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).

283 in the last 10 years · medium confidence · 84th percentile (publications denominator)

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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

medium 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.

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

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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"

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" OR "OFD1"

Recall-expansion terms: OFD1

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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

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