ORPHA:3105
Robinow-like syndrome
Also known as: Saal-Greenstein syndrome
Publications
10
Trials
0
Interventional, condition-specific
Researchers
95
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
10 matched papers (8 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
10
10 papers have ever been indexed 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.
10 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).
8 in the last 10 years · low confidence
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
95
Distinct author names in 10 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.
- 01Lohi H2 papers · 2026
Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. hannes.lohi@helsinki.fi.
Papers in Europe PMC - 02Akazawa T1 paper · 2019
Life Sciences Institute and Faculty of Dentistry, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 03Bahrambeigi V1 paper · 2018
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Papers in Europe PMC - 04Bannasch D1 paper · 2021
Department of Population Health and Reproduction, University of California Davis, Davis, CA, 95616, USA.
Papers in Europe PMC - 05Bannasch DL1 paper · 2018
Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Papers in Europe PMC - 06Barbosa Neto J1 paper · 1991Papers in Europe PMC
- 07Bayram Y1 paper · 2018
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
Papers in Europe PMC - 08Beaver E1 paper · 2018
Mercy Clinic-Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, MO 63141, USA.
Papers in Europe PMC - 09Brown CT1 paper · 2018
Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Papers in Europe PMC - 10Brunner HG1 paper · 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
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.
low 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-like syndrome" OR "Saal-Greenstein syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Robinow-like syndrome" OR "Saal-Greenstein 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T22:14:54.437Z