ORPHA:3472
Yunis-Varon syndrome
Also known as: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
193
69.1th percentile
Trials
0
Interventional, condition-specific
Researchers
5,448
Distinct authors in sample
Gene link
FIG4
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple syndrome, characterized by cleidocranial (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic with hip dislocations. features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global , and respiratory, feeding and swallowing difficulties.
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:0008995
- MeSH:C536719
- OMIM:216340
- UMLS:C1857663
Additional Mondo synonyms (5)
Yunis Varon Syndrome · Yunis Varon syndrome · Yunis-Varón syndrome · cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia · cleidocranial dysplasia-micrognathia-absent thumbs 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
Strong — FIG4
- LiteraturePresent
193 matched papers (117 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?
Yes — we know a specific gene responsible (FIG4).
GenCC classification: Strong.
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?
193
193 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.
193 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).
117 in the last 10 years · high confidence · 69.1th percentile (publications denominator)
Phrase hits: 193 · MeSH hits: 0
Who's working on it?
5,448
Distinct author names in 193 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.
- 01Wang Y16 papers · 2023
Saint Louis University, Department of Biology, Saint Louis, MO, USA.
Papers in Europe PMC - 02Lenk GM15 papers · 2023
Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, United States.
Papers in Europe PMC - 03Meisler MH14 papers · 2023
Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, United States.
Papers in Europe PMC - 04Zhang Y13 papers · 2023
The Chinese University of Hong Kong, Department of Anaesthesia and Intensive Care, Hong Kong, China.
Papers in Europe PMC - 05Zhang H11 papers · 2021
Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.
Papers in Europe PMC - 06Li J10 papers · 2024
Sichuan University, West China Hospital, State key laboratory of biotherapy, Chengdu, Sichuan, China.
Papers in Europe PMC - 07Liu Y10 papers · 2023
Tsinghua Unversity, School of Life Sciences, Beijing, China.
Papers in Europe PMC - 08Li M9 papers · 2021
Jinan University, College of Life Science and Technology, Department of Biology, Guangzhou, China.
Papers in Europe PMC - 09Liu X8 papers · 2021
University of Colorado at Boulder, Department of Biochemistry, Boulder, CO, USA.
Papers in Europe PMC - 10Zhang L8 papers · 2021
Huazhong University of Science and Technology, College of Life Science and Technology, Key Laboratory of Molecular Biophysics of Ministry of Education,Wuhan, Hubei, China.
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.
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.
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.
"Yunis-Varon syndrome" OR "Cleidocranial dysplasia-micrognathia-absent thumbs syndrome" OR "Yunis Varon Syndrome" OR "Yunis-Varón syndrome" OR "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Yunis-Varon syndrome" OR "Cleidocranial dysplasia-micrognathia-absent thumbs syndrome" OR "Yunis Varon Syndrome" OR "Yunis-Varón syndrome" OR "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" OR "FIG4"
Recall-expansion terms: FIG4
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:18:33.977Z