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ORPHA:140952

Syndactyly-telecanthus-anogenital and renal malformations syndrome

high confidenceDisorder

Also known as: STAR syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

187

62.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,037

Distinct authors in sample

Gene link

CCNQ

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — CCNQ

  2. LiteraturePresent

    187 matched papers (141 in last 10 years) Source

  3. Phenotype characterisedPresent

    69 HPO annotations (e.g. Short stature; Vesicoureteral reflux; Renal insufficiency) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

69

Associated phenotypes · MONDO:0010408

  • Short stature
  • Vesicoureteral reflux
  • Renal insufficiency
  • Horseshoe kidney
  • Ectopic kidney

Showing 5 of 69 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

187

187 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=3967) is 59.

187 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

141 in the last 10 years · high confidence · 62.3th percentile (publications denominator)

Phrase hits: 151 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Colas 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
  2. 02
    Pruvot E6 papers · 2026

    Department of Cardiology, Lausanne University Hospital, CHUV, Lausanne, Switzerland.

    Papers in Europe PMC
  3. 03
    Blamek S5 papers · 2026

    Department of Radiotherapy, Maria Sklodowska-Curie National Research Institute of Oncology, 44-102 Gliwice, Poland.

    Papers in Europe PMC
  4. 04
    Di Monaco A5 papers · 2024

    Cardiology Department, General Regional Hospital F. Miulli, 70021 Acquaviva delle Fonti, Italy.

    Papers in Europe PMC
  5. 05
    Jadczyk T5 papers · 2026

    Department of Cardiology and Structural Heart Diseases, Medical University of Silesia, 40-055 Katowice, Poland.

    Papers in Europe PMC
  6. 06
    Schiappacasse L5 papers · 2026

    Department of Cardiology, Service de Radio-Oncologie, Lausanne University Hospital, CHUV, Lausanne, Switzerland.

    Papers in Europe PMC
  7. 07
    Bonaparte I4 papers · 2024

    Department of Radiation Oncology, General Regional Hospital F. Miulli, Bari, Italy.

    Papers in Europe PMC
  8. 08
    Fiorentino A4 papers · 2024

    Department of Radiation Oncology, General Regional Hospital F. Miulli, Bari, Italy.

    Papers in Europe PMC
  9. 09
    Grimaldi M4 papers · 2024

    Department of Cardiology, General Regional Hospital F. Miulli, Bari, Italy.

    Papers in Europe PMC
  10. 10
    Guen 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (17)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Syndactyly-telecanthus-anogenital and renal malformations syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations") OR ("CCNQ" OR "CCNQ syndrome" OR "CCNQ-related")

Run this search on Europe PMC

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"

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; 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