ORPHA:97360
Robinow syndrome
Also known as: Acral dysostosis with facial and genital abnormalities · Fetal face syndrome · Mesomelic dwarfism-small genitalia syndrome · Robinow dwarfism · Robinow-Silverman-Smith syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
802
89.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,127
Distinct authors in sample
Gene link
DVL2
Moderate
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019978
- UMLS:C0265205
- NCIT:C85048
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.”
2/6 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.
- Gene identifiedPresent
Moderate — DVL2
- LiteraturePresent
802 matched papers (470 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
802
802 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.
802 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).
470 in the last 10 years · medium confidence · 89.7th percentile (publications denominator)
Phrase hits: 802 · MeSH hits: 0
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.
- 01Sutton 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 - 02Carvalho 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 - 03Mazzeu JF9 papers · 2025
Faculdade de Medicina, Universidade de Brasília, Brasília DF 70910900, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.
Papers in Europe PMC - 04Richman JM9 papers · 2026
1 Life Sciences Institute, Department of Oral Health Sciences, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 05Verheyen 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 - 06Zhang C8 papers · 2026
Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Papers in Europe PMC - 07Fu K7 papers · 2026
1 Life Sciences Institute, Department of Oral Health Sciences, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 08Ho 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 - 09Lupski 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 - 10Akarsu 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "DVL2"
Recall-expansion terms: DVL2
Study-type breakdown: 0 interventional · 0 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
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
Ingested 2026-07-27T05:13:21.460Z