ORPHA:2704
Urofacial syndrome
Also known as: Hydronephrosis-inverted smile syndrome · Inverted smile-neurogenic bladder syndrome · Ochoa facial syndrome · Ochoa syndrome · Partial facial palsy with urinary abnormalities
Publications
171
64.5th percentile
Trials
0
Interventional, condition-specific
Researchers
946
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic urinary tract characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0000463
- MeSH:C536480
- UMLS:C0403555
Additional Mondo synonyms (5)
Urofacial Syndrome · hydronephrosis-inverted smile syndrome · inverted smile-neurogenic bladder syndrome · partial facial palsy with urinary abnormalities · urofacial 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
171 matched papers (89 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
171
171 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.
171 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).
89 in the last 10 years · medium confidence · 64.5th percentile (publications denominator)
Phrase hits: 171 · MeSH hits: 0
Who's working on it?
946
Distinct author names in 171 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.
- 01Woolf AS25 papers · 2024
Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.
Papers in Europe PMC - 02Newman WG19 papers · 2024
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Papers in Europe PMC - 03Roberts NA16 papers · 2024
Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;
Papers in Europe PMC - 04Vlodavsky I13 papers · 2024
Cancer and Vascular Biology Research Center, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. vlodavsk@mail.huji.ac.il.
Papers in Europe PMC - 05Wang CY12 papers · 2014
Department of Pathology, Immunology and Laboratory Medicine, Center for Mammalian Genetics, College of Medicine, University of Florida, Gainesville 32610, USA.
Papers in Europe PMC - 06Ilan N11 papers · 2024
Cancer and Vascular Biology Research Center, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Papers in Europe PMC - 07Stuart HM11 papers · 2022
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Papers in Europe PMC - 08Beaman GM9 papers · 2023
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Papers in Europe PMC - 09Lopes FM9 papers · 2024
Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.
Papers in Europe PMC - 10Gross-Cohen M8 papers · 2024
Cancer and Vascular Biology Research Center, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
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.
"Urofacial syndrome" OR "Hydronephrosis-inverted smile syndrome" OR "Inverted smile-neurogenic bladder syndrome" OR "Ochoa facial syndrome" OR "Ochoa syndrome" OR "Partial facial palsy with urinary abnormalities"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Urofacial syndrome" OR "Hydronephrosis-inverted smile syndrome" OR "Inverted smile-neurogenic bladder syndrome" OR "Ochoa facial syndrome" OR "Ochoa syndrome" OR "Partial facial palsy with urinary abnormalities"
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
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 2026-07-26T20:54:30.336Z