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ORPHA:391641

Feingold syndrome type 1

low confidenceSubtype of disorder

Also known as: Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 · FGLDS1 · FS1 · MMT type 1 · MODED syndrome type 1 · Microcephaly-digital anomalies-normal intelligence syndrome type 1 · Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 · Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 · ODED syndrome type 1 · Oculo-digito-esophageal-duodenal syndrome type 1

Publications

16,683

Trials

0

Interventional, condition-specific

Researchers

383

Distinct authors in sample

Gene link

MYCN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.

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 (8)

Feingold syndrome caused by mutation in MYCN · MYCN Feingold syndrome · digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 · digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1 · microcephaly-digital anomalies-normal intelligence syndrome type 1 · microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 · microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 · oculo-digito-esophageal-duodenal syndrome type 1

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 — MYCN

  2. LiteraturePresent

    16,683 matched papers (11,758 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Interrupted aortic arch; Tricuspid stenosis; Asplenia) 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 (MYCN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0008115

  • Interrupted aortic arch
  • Tricuspid stenosis
  • Asplenia
  • Small anterior fontanelle
  • Anteverted nares

Showing 5 of 80 — 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?

16,683

16,683 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.

16,683 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).

11,758 in the last 10 years · low confidence

Phrase hits: 39 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

383

Distinct author names in 39 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
    Zhang H4 papers · 2024

    The Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China

    Papers in Europe PMC
  2. 02
    Liu X3 papers · 2022

    Department of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.

    Papers in Europe PMC
  3. 03
    Barker RA2 papers · 2024

    John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB20QQ, UK

    Papers in Europe PMC
  4. 04
    Blain R2 papers · 2024

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

    Papers in Europe PMC
  5. 05
    Bolt L2 papers · 2024

    Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK

    Papers in Europe PMC
  6. 06
    Chedotal A2 papers · 2024

    Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

    Papers in Europe PMC
  7. 07
    Chen D2 papers · 2022

    Department of Colorectal Surgery, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  8. 08
    Cheng T2 papers · 2022

    Institute of Genetics and Department of Human Genetics, Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  9. 09
    Chung WK2 papers · 2021

    Department of Pediatrics, Columbia University Medical Center, New York, NY, USA; Department of Medicine, Columbia University Medical Center, New York, NY, USA.

    Papers in Europe PMC
  10. 10
    Dean A2 papers · 2024

    Department of Clinical Neurosciences, Cambridge University Hospitals NHS Foundation

    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 Feingold 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: Feingold 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 Feingold 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.

("Feingold syndrome type 1" OR "Brunner-Winter syndrome type 1" OR "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" OR "Digital anomalies with short palpebral fissures and atresia of the esophagus or duodenum type 1" OR "FGLDS1" OR "MMT type 1" OR "MODED syndrome type 1" OR "Microcephaly-digital anomalies-normal intelligence syndrome type 1" OR "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" OR "Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" OR "ODED syndrome type 1" OR "Oculo-digito-esophageal-duodenal syndrome type 1" OR "Feingold syndrome caused by mutation in MYCN" OR "MYCN Feingold syndrome" OR "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" OR "digital anomalies with short palpebral fissures and atresia of the oesophagus or duodenum type 1") OR ("MYCN" OR "MYCN syndrome" OR "MYCN-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Feingold syndrome type 1" OR "Brunner-Winter syndrome type 1" OR "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" OR "Digital anomalies with short palpebral fissures and atresia of the esophagus or duodenum type 1" OR "FGLDS1" OR "MMT type 1" OR "MODED syndrome type 1" OR "Microcephaly-digital anomalies-normal intelligence syndrome type 1" OR "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" OR "Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" OR "ODED syndrome type 1" OR "Oculo-digito-esophageal-duodenal syndrome type 1" OR "Feingold syndrome caused by mutation in MYCN" OR "MYCN Feingold syndrome" OR "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" OR "digital anomalies with short palpebral fissures and atresia of the oesophagus or duodenum type 1"

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

Parent-category trials query:

"Feingold syndrome"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FS1

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
  • Publication count (16683) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:08:33.931Z