ORPHA:46627
Char syndrome
Also known as: Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
173
66.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,058
Distinct authors in sample
Gene link
TFAP2B
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies/ syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).
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:0008209
- MeSH:C566815
- OMIM:169100
- UMLS:C1868570
Additional Mondo synonyms (1)
patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
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
Definitive — TFAP2B
- LiteraturePresent
173 matched papers (100 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 (TFAP2B).
GenCC classification: Definitive.
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?
173
173 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.
173 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).
100 in the last 10 years · medium confidence · 66.3th percentile (publications denominator)
Phrase hits: 173 · MeSH hits: 0
Who's working on it?
1,058
Distinct author names in 173 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.
- 01Gelb BD9 papers · 2018
Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. gelb@msvax.mssm.edu
Papers in Europe PMC - 02Williams T7 papers · 2022
Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA eric.vanotterloo@ucdenver.edu trevor.williams@ucdenver.edu.
Papers in Europe PMC - 03Li H6 papers · 2024
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 04Zhang H6 papers · 2024
The Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China. zhanghongbo@mail.sysu.edu.cn.
Papers in Europe PMC - 05Bringmann H5 papers · 2023
Max Planck Research Group "Sleep and Waking", Max Planck Institute for Biophysical Chemistry, Göttingen 37077, Germany Henrik.Bringmann@mpibpc.mpg.de.
Papers in Europe PMC - 06Dagle JM5 papers · 2022
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA US.
Papers in Europe PMC - 07Garg V5 papers · 2021
Department of Pediatrics (Division of Cardiology) and Molecular Biology, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Rm. NA8.124, Dallas, Texas 75390, USA. vidu.garg@utsouthwestern.edu
Papers in Europe PMC - 08Murray JC5 papers · 2022
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA US.
Papers in Europe PMC - 09Clyman RI4 papers · 2022
Department of Pediatrics, Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94143.
Papers in Europe PMC - 10Jones KL4 papers · 2024
Department of Pediatrics, Section of Hematology, Oncology, and Bone Marrow Transplant, University of Colorado School of Medicine, Aurora, CO 80045 USA.
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.
"Char syndrome" OR "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Char syndrome" OR "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" OR "TFAP2B"
Recall-expansion terms: TFAP2B
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 2026-07-27T00:11:04.298Z