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ORPHA:391641

Feingold syndrome type 1

medium 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

39

47.5th percentile

Trials

1

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MYCN

  2. LiteraturePresent

    39 matched papers (36 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

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?

39

39 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=5449) is 41.

39 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).

36 in the last 10 years · medium confidence · 47.5th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

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.

"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"

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" OR "MYCN"

Recall-expansion terms: MYCN

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

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

Parent-category trials query:

"Feingold syndrome"

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

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

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