ORPHA:3107
Autosomal dominant Robinow syndrome
Publications
160
69.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,142
Distinct authors in sample
Gene link
WNT5A
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008389
- UMLS:C5200540
Additional Mondo synonyms (3)
Robinow syndrome, autosomal dominant · Robinow syndrome, autosomal dominant type · autosomal dominant Robinow 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 — WNT5A
- LiteraturePresent
160 matched papers (122 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 WNT5A.
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?
160
160 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.
160 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).
122 in the last 10 years · high confidence · 69.8th percentile (publications denominator)
Phrase hits: 160 · MeSH hits: 0
Who's working on it?
1,142
Distinct author names in 160 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.
- 01Mazzeu JF7 papers · 2018
University of Brasilia, Brasilia 70910, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.
Papers in Europe PMC - 02Brunner HG6 papers · 2018
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
Papers in Europe PMC - 03Gibbs RA6 papers · 2018
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 04Lupski JR6 papers · 2020
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 05Carvalho CMB5 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: cfonseca@bcm.edu.
Papers in Europe PMC - 06Sutton VR5 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 07Jhangiani SN4 papers · 2018
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 08Li H4 papers · 2025
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 09Muzny DM4 papers · 2018
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 10Richman JM4 papers · 2026
Life Sciences Institute and Faculty of Dentistry, University of British Columbia, Vancouver, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
high 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.
Broader category Robinow syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: Robinow 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.
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.
"Autosomal dominant Robinow syndrome" OR "Robinow syndrome, autosomal dominant" OR "Robinow syndrome, autosomal dominant type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Robinow syndrome" OR "Robinow syndrome, autosomal dominant" OR "Robinow syndrome, autosomal dominant type" OR "WNT5A" OR "autosomal genetic disease"
Recall-expansion terms: WNT5A, autosomal genetic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Robinow syndrome"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:15:13.396Z