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ORPHA:97360

Robinow syndrome

low confidenceDisorder

Also known as: Acral dysostosis with facial and genital abnormalities · Fetal face syndrome · Mesomelic dwarfism-small genitalia syndrome · Robinow dwarfism · Robinow-Silverman-Smith syndrome

Publications

6,639

Trials

0

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

DVL2

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

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 (4)

acral dysostosis with facial and genital abnormalities · fetal face syndrome · foetal face syndrome · mesomelic dwarfism-small genitalia 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Moderate — DVL2

  2. LiteraturePresent

    6,639 matched papers (3,755 in last 10 years) Source

  3. Phenotype characterisedPresent

    554 HPO annotations (e.g. Wide nasal bridge; Anteverted nares; Hypoplasia of penis) Source

  4. Animal modelPresent

    7 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 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?

Probably — there is moderate evidence for DVL2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

554

Associated phenotypes · MONDO:0019978

  • Wide nasal bridge
  • Anteverted nares
  • Hypoplasia of penis
  • Hemivertebrae
  • Clinodactyly of the 5th finger

Showing 5 of 554 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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

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?

6,639

6,639 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.

6,639 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).

3,755 in the last 10 years · low confidence

Phrase hits: 802 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,127

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
    Sutton VR12 papers · 2025

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.

    Papers in Europe PMC
  2. 02
    Carvalho CMB9 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: cfonseca@bcm.edu.

    Papers in Europe PMC
  3. 03
    Mazzeu JF9 papers · 2025

    Faculdade de Medicina, Universidade de Brasília, Brasília DF 70910900, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.

    Papers in Europe PMC
  4. 04
    Richman JM9 papers · 2026

    1 Life Sciences Institute, Department of Oral Health Sciences, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  5. 05
    Verheyen EM9 papers · 2026

    Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.

    Papers in Europe PMC
  6. 06
    Zhang C8 papers · 2026

    Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.

    Papers in Europe PMC
  7. 07
    Fu K7 papers · 2026

    1 Life Sciences Institute, Department of Oral Health Sciences, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  8. 08
    Ho HH6 papers · 2026

    Department of Cell Biology and Human Anatomy, School of Medicine, University of California Davis, Davis, CA, United States of America.

    Papers in Europe PMC
  9. 09
    Lupski JR6 papers · 2025

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  10. 10
    Akarsu G5 papers · 2026

    Department of Molecular Biology and Biochemistry, Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia V5A 1S6, Canada.

    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.

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

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 2026-07-30

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).

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 Robinow 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.

("Robinow syndrome" OR "Acral dysostosis with facial and genital abnormalities" OR "Fetal face syndrome" OR "Mesomelic dwarfism-small genitalia syndrome" OR "Robinow dwarfism" OR "Robinow-Silverman-Smith syndrome" OR "foetal face syndrome") OR ("DVL2" OR "DVL2 syndrome" OR "DVL2-related")

Run this search on Europe PMC

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

"Robinow syndrome" OR "Acral dysostosis with facial and genital abnormalities" OR "Fetal face syndrome" OR "Mesomelic dwarfism-small genitalia syndrome" OR "Robinow dwarfism" OR "Robinow-Silverman-Smith syndrome" OR "foetal face syndrome"

Study-type breakdown: 0 interventional · 0 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (6639) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:13:21.460Z