ORPHA:95706
Non-syndromic posterior hypospadias
Also known as: Hypospadias, severe form · Perineal, scrotal or penoscrotal hypospadias
Publications
1
8th percentile
Trials
0
Interventional, condition-specific
Researchers
10
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, non-syndromic, , urogenital tract affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019848
- UMLS:C5231010
Additional Mondo synonyms (1)
perineal, scrotal or penoscrotal hypospadias
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
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
1 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Cryptorchidism; Depression; Small for gestational age) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
16
Associated phenotypes · MONDO:0019848
- Cryptorchidism
- Depression
- Small for gestational age
- Urethral diverticulum
- Displacement of the urethral meatus
Showing 5 of 16 — 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?
1
1 paper have ever been indexed 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.
1 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).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
10
Distinct author names in 1 sampled paper — 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.
- 01Ahmad I1 paper · 2024
Department of Undergraduate Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 02Alshammari D1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 03Bagli D1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 04Bobrowski A1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 05Chancy M1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 06Chua ME1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 07Kim JK1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 08Lorenzo AJ1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 09Rickard M1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 10Yadav P1 paper · 2024
Division of Urology, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, Ontario, Canada.
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.
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.
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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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 (11)
- ctis·2024-516018-39-00·Authorised·SEM-CORTICO.Severe erythema multiform: A randomized controlled trial com-paring a short systemic corticosteroids regimen to placebo in the acute established phase.
skipped — LLM skipped (--skip-llm)
- ctis·2022-500870-32-02·Authorised, ongoing·Evaluation of the effectiveness of the reconsolidation therapy in a clinical population suffering from post-traumatic stress disorder
skipped — LLM skipped (--skip-llm)
- ctis·2026-525770-19-00·Authorised, ongoing·Optimising the protocol of labour induction using misoprostol – randomised open-label clinical trial (OPTIMISO)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519740-32-00·Authorised, ongoing·Tolerance of local administration of cryopreserved autologous stromal vascular fraction combined with micrograft for the treatment of refractory ano-perineal fistulas in Crohn's disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-519007-10-00·Authorised, ongoing·NeoAspMet - Neoadjuvant Aspirin and/or Metformin during preoperative induction chemotherapy and chemoradiotherapy for locally-advanced rectal cancer. A multi-arm, multi-stage, intergroup (STAR-04/SICO-CR01/GISCAD/AIRO-GI) randomised clinical trial. The NeoAspMet trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518148-19-00·Authorised·EFFICACY OF USUAL MANAGEMENT BY LOCAL ANESTHETIC INFILTRATION IN THE TREATMENT OF CHRONIC IDIOPATHIC ANO-PERINEAL PAIN: A RANDOMIZED DOUBLE-BLIND -CONTROLLED TRIAL
skipped — LLM skipped (--skip-llm)
- ctis·2024-513306-65-00·Revoked·Safety and potential effect of innovative treatment by adjuvant injection of stromal vascular Fraction from autologous adipose tissue of URethral stenosis with endoscopic urethrotomy: randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-512728-12-00·Authorised, ongoing·A randomized clinical trial to compare topical lidocaine-prilocaine cream (Emla) versus 2% lidocaine infiltration to first-degree perineal tears repair
skipped — LLM skipped (--skip-llm)
- ctis·2023-507541-29-00·Expired·EFFICACY AND SAFETY OF CROMOGLYCATE AS A NEW SYMPTOMATIC TREATMENT IN PATIENTS WITH MULTIPLE SCLEROSIS
skipped — LLM skipped (--skip-llm)
- ctis·2022-502292-39-00·Authorised, ongoing·Does adding patient-controlled sedation with propofol during repair of obstetric perineal lacerations grade I and II improve patient experiences - a randomized control trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-501930-49-00·Cancelled·Oral antibiotics to prevent infection and wound dehiscence after obstetric perineal tear - a double-blinded placebo controlled randomized trail
skipped — LLM skipped (--skip-llm)
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 Non-syndromic posterior hypospadias — check Associations / patient organisations on that page.
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.
"Non-syndromic posterior hypospadias" OR "Hypospadias, severe form" OR "Perineal, scrotal or penoscrotal hypospadias"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Non-syndromic posterior hypospadias" OR "Hypospadias, severe form" OR "Perineal, scrotal or penoscrotal hypospadias"
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:48:21.761Z