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ORPHA:3138

Ulnar-mammary syndrome

low confidenceDisorder

Also known as: Pallister ulnar-mammary syndrome · Schinzel syndrome · UMS

Publications

5,630

Trials

0

Interventional, condition-specific

Researchers

1,299

Distinct authors in sample

Gene link

TBX3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare anomalies syndrome characterized by a variable spectrum of ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. The most frequent signs include fifth finger and dental anomalies, delayed puberty and mammary hypoplasia. Short stature and obesity are common.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Schinzel Syndrome · ulnar-mammary syndrome · ums

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — TBX3

  2. LiteraturePresent

    5,630 matched papers (3,771 in last 10 years) Source

  3. Phenotype characterisedPresent

    79 HPO annotations (e.g. Abnormal morphology of the radius; Absent hand; Hernia of the abdominal wall) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  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 (TBX3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

79

Associated phenotypes · MONDO:0008411

  • Abnormal morphology of the radius
  • Absent hand
  • Hernia of the abdominal wall
  • Ectopic anus
  • Aplasia of the pectoralis major muscle

Showing 5 of 79 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

5,630

5,630 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,630 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).

3,771 in the last 10 years · low confidence

Phrase hits: 488 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,299

Distinct author names in 200 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
    Prince S11 papers · 2025

    Division of Cell Biology, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7925, South Africa.

    Papers in Europe PMC
  2. 02
    Saitoh S7 papers · 2025

    Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.

    Papers in Europe PMC
  3. 03
    Kato K6 papers · 2025

    School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK.

    Papers in Europe PMC
  4. 04
    Moon AM6 papers · 2023

    Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, Utah, United States of America; Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America; Molecular Medicine Program, University of Utah, Salt Lake City, Utah, United States of America; Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania, United States of America.

    Papers in Europe PMC
  5. 05
    Wang Y6 papers · 2026

    Reproductive Medicine Center, Tongji Hospital, Tongji University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Cullen PJ5 papers · 2025

    School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK. Electronic address: pete.cullen@bristol.ac.uk.

    Papers in Europe PMC
  7. 07
    Heesom KJ5 papers · 2025

    Proteomics Facility, School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK.

    Papers in Europe PMC
  8. 08
    Papaioannou VE5 papers · 2013

    Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, 701 W. 168th Street, New York, NY 10032, USA. vep1@columbia.edu

    Papers in Europe PMC
  9. 09
    Peres J5 papers · 2020

    Division of Cell Biology, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7925, South Africa.

    Papers in Europe PMC
  10. 10
    Saito M5 papers · 2023

    Department of Gastrointestinal Tract Surgery, Fukushima Medical University School of Medicine.

    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 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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Ulnar-mammary 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.

("Ulnar-mammary syndrome" OR "Pallister ulnar-mammary syndrome" OR "Schinzel syndrome") OR ("TBX3" OR "TBX3 syndrome" OR "TBX3-related")

Run this search on Europe PMC

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

"Ulnar-mammary syndrome" OR "Pallister ulnar-mammary syndrome" OR "Schinzel syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: UMS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5630) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:18:20.440Z