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ORPHA:1509

Coxopodopatellar syndrome

low confidenceDisorder

Also known as: Ischiocoxopodopatellar syndrome · Ischiopatellar dysplasia · Ischiopubicpatellar syndrome · SPS · Scott-Taor syndrome · Small patella syndrome

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

Publications

195

Trials

0

Interventional, condition-specific

Researchers

1,283

Distinct authors in sample

Gene link

TBX4

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic condition characterized by the association of patellar aplasia or hypoplasia, pelvic abnormalities, and foot malformations, with or without pulmonary arterial hypertension.

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 (4)

coxopodopatellar syndrome · ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension · ischiopatellar dysplasia · small patella 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.

  1. Gene identifiedPresent

    Definitive — TBX4

  2. LiteraturePresent

    195 matched papers (136 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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 (TBX4).

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?

195

195 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.

195 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).

136 in the last 10 years · low confidence

Phrase hits: 195 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,283

Distinct author names in 195 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
    Stankiewicz P14 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; and.

    Papers in Europe PMC
  2. 02
    Chung WK10 papers · 2023

    Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O., A.B., F.D.); Department of Pediatric Cardiology, Children's Hospital Colorado, Denver (D.D.I.); Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN (E.D.A., R.H.); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, OH (W.C.N., M.W.P., K.A.L.).

    Papers in Europe PMC
  3. 03
    Karolak JA10 papers · 2024

    Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

    Papers in Europe PMC
  4. 04
    Szafranski P10 papers · 2026

    Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, 77030, USA.

    Papers in Europe PMC
  5. 05
    Gambin T9 papers · 2026

    Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

    Papers in Europe PMC
  6. 06
    Montani D8 papers · 2025

    AP-HP, Dept of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Centre, Hôpital Bicêtre, Le Kremlin-Bicêtre, France david.montani@aphp.fr.

    Papers in Europe PMC
  7. 07
    Gräf S7 papers · 2025

    Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

    Papers in Europe PMC
  8. 08
    Morrell NW7 papers · 2023

    Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

    Papers in Europe PMC
  9. 09
    Austin ED6 papers · 2025

    Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O., A.B., F.D.); Department of Pediatric Cardiology, Children's Hospital Colorado, Denver (D.D.I.); Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN (E.D.A., R.H.); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, OH (W.C.N., M.W.P., K.A.L.).

    Papers in Europe PMC
  10. 10
    Bongers EM6 papers · 2015

    Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. ernie.bongers@radboudumc.nl.

    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.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

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.

"Coxopodopatellar syndrome" OR "Ischiocoxopodopatellar syndrome" OR "Ischiopatellar dysplasia" OR "Ischiopubicpatellar syndrome" OR "Scott-Taor syndrome" OR "Small patella syndrome" OR "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Coxopodopatellar syndrome" OR "Ischiocoxopodopatellar syndrome" OR "Ischiopatellar dysplasia" OR "Ischiopubicpatellar syndrome" OR "Scott-Taor syndrome" OR "Small patella syndrome" OR "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" OR "TBX4"

Recall-expansion terms: TBX4

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

Synonyms dropped by stoplist: SPS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:35:48.505Z