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ORPHA:813

Silver-Russell syndrome

medium confidenceDisorder

Also known as: Silver-Russell dwarfism

Publications

8,195

94.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,218

Distinct authors in sample

Gene link

CDKN1C

Limited

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — CDKN1C

  2. LiteraturePresent

    8,195 matched papers (4,625 in last 10 years) Source

  3. Phenotype characterisedPresent

    293 HPO annotations (e.g. Blue sclerae; Cachexia; Relative macrocephaly) Source

  4. Animal modelPresent

    3 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 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)

293

Associated phenotypes · MONDO:0008394

  • Blue sclerae
  • Cachexia
  • Relative macrocephaly
  • Cryptorchidism
  • Abnormal male external genitalia morphology

Showing 5 of 293 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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

1

Drugs / clinical candidates · MONDO_0008394

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,195

8,195 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.

8,195 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).

4,625 in the last 10 years · medium confidence · 94.4th 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 Silver-Russell syndrome — 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.

("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" OR "CDKN1C syndrome" OR "CDKN1C-related")

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"

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: ok — strategies attempted: phrase; 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