ORPHA:140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Also known as: STAR syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
151
67.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,037
Distinct authors in sample
Gene link
CCNQ
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
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:0010408
- MeSH:C567475
- OMIM:300707
- UMLS:C2678045
Additional Mondo synonyms (2)
STAR syndrome, X-linked dominant · syndactyly-telecanthus-anogenital and renal malformations 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CCNQ
- LiteraturePresent
151 matched papers (106 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 trialPartial
None under the specific name; 5 for broader category syndactyly
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 (CCNQ).
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?
151
151 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.
151 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).
106 in the last 10 years · high confidence · 67.5th percentile (publications denominator)
Phrase hits: 151 · MeSH hits: 0
Who's working on it?
1,037
Distinct author names in 151 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.
- 01Colas P6 papers · 2021
a P2I2 group, Protein Phosphorylation and Human Disease Laboratory, Station Biologique de Roscoff, Centre National de la Recherche Scientifique (CNRS) and Université Pierre et Marie Curie (UPMC) , Roscoff , France.
Papers in Europe PMC - 02Pruvot E6 papers · 2026
Department of Cardiology, Lausanne University Hospital, CHUV, Lausanne, Switzerland.
Papers in Europe PMC - 03Blamek S5 papers · 2026
Department of Radiotherapy, Maria Sklodowska-Curie National Research Institute of Oncology, 44-102 Gliwice, Poland.
Papers in Europe PMC - 04Di Monaco A5 papers · 2024
Cardiology Department, General Regional Hospital F. Miulli, 70021 Acquaviva delle Fonti, Italy.
Papers in Europe PMC - 05Jadczyk T5 papers · 2026
Department of Cardiology and Structural Heart Diseases, Medical University of Silesia, 40-055 Katowice, Poland.
Papers in Europe PMC - 06Schiappacasse L5 papers · 2026
Department of Cardiology, Service de Radio-Oncologie, Lausanne University Hospital, CHUV, Lausanne, Switzerland.
Papers in Europe PMC - 07Bonaparte I4 papers · 2024
Department of Radiation Oncology, General Regional Hospital F. Miulli, Bari, Italy.
Papers in Europe PMC - 08Fiorentino A4 papers · 2024
Department of Radiation Oncology, General Regional Hospital F. Miulli, Bari, Italy.
Papers in Europe PMC - 09Grimaldi M4 papers · 2024
Department of Cardiology, General Regional Hospital F. Miulli, Bari, Italy.
Papers in Europe PMC - 10Guen VJ4 papers · 2018
P2I2 Group, Protein Phosphorylation and Human Disease Unit, Station Biologique, Centre National de la Recherche Scientifique (CNRS), Unité de Service et de Recherche USR3151, 29680 Roscoff, France.
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). 5 trials are registered for syndactyly, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
5 interventional trials matched syndactyly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: syndactyly
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Syndactyly-telecanthus-anogenital and renal malformations syndrome" OR "STAR syndrome" OR "STAR syndrome, X-linked dominant"
MeSH descriptor terms unioned into the query: Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Syndactyly-telecanthus-anogenital and renal malformations syndrome" OR "STAR syndrome" OR "STAR syndrome, X-linked dominant" OR "Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations" OR "CCNQ" OR "polydactyly-syndactyly-triphalangism"
Recall-expansion terms: CCNQ, polydactyly-syndactyly-triphalangism
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"syndactyly"
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T07:47:47.414Z