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ORPHA:813

Silver-Russell syndrome

medium confidenceDisorder

Also known as: Silver-Russell dwarfism

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,339

93.8th percentile

Trials

1

Interventional, condition-specific

Researchers

1,218

Distinct authors in sample

Gene link

CDKN1C

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and features.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Russell Silver syndrome · Russell-Silver Syndrome · Russell-Silver dwarfism · Russell-Silver syndrome · SRS · Silver Russell syndrome

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

    Limited — CDKN1C

  2. LiteraturePresent

    2,339 matched papers (1,219 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

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 CDKN1C.

GenCC classification: Limited.

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?

2,339

2,339 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.

2,339 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).

1,219 in the last 10 years · medium confidence · 93.8th percentile (publications denominator)

Phrase hits: 2,339 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,218

Distinct author names in 200 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
    Netchine I17 papers · 2026

    Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

    Papers in Europe PMC
  2. 02
    Eggermann T9 papers · 2026

    Zentrum für Humangenetik und Genommedizin, Medizinische Fakultät, RWTH Aachen, Aachen, Germany.

    Papers in Europe PMC
  3. 03
    Russo S9 papers · 2025

    Cytogenetic and Molecular Genetics Laboratory, IRCCS, Istituto Auxologico Italiano, Milano, Italy.

    Papers in Europe PMC
  4. 04
    Giabicani E8 papers · 2026

    Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Assistance Publique - Hôpitaux de Paris (APHP), Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

    Papers in Europe PMC
  5. 05
    Kagami M8 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Davies JH7 papers · 2025

    Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.

    Papers in Europe PMC
  7. 07
    Temple IK6 papers · 2025

    Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK ikt@soton.ac.uk.

    Papers in Europe PMC
  8. 08
    Vimercati A6 papers · 2025

    Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

    Papers in Europe PMC
  9. 09
    Brioude F5 papers · 2026

    Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Assistance Publique - Hôpitaux de Paris (APHP), Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

    Papers in Europe PMC
  10. 10
    Fukami M5 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535, Japan.

    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; none in our sample are currently recruiting.

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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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.

"Silver-Russell syndrome" OR "Silver-Russell dwarfism" OR "Russell Silver syndrome" OR "Russell-Silver Syndrome" OR "Russell-Silver dwarfism" OR "Silver Russell syndrome"

Run this search on Europe PMC

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

"Silver-Russell syndrome" OR "Silver-Russell dwarfism" OR "Russell Silver syndrome" OR "Russell-Silver Syndrome" OR "Russell-Silver dwarfism" OR "Silver Russell syndrome" OR "CDKN1C"

Recall-expansion terms: CDKN1C

Interventional trials matched via: phrase (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 · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SRS

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 2026-07-26T15:30:42.930Z