RARE DISEASERESEARCH ATLAS

ORPHA:314432

Spigelian hernia-cryptorchidism syndrome

high confidence

Clinical definition (Orphanet)

Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.

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

Is anyone studying this?

2

2 papers 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=183) is 38.

2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

2 in the last 10 years · high confidence · 15.3th percentile (publications denominator)

Is a treatment being tested?

0

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 26 July 2026

No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.

high confidence · 29.6th percentile (trials denominator)

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.

Who's working on it?

7

Distinct author names in 2 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
    Ablatt S1 paper · 2025

    Surgery, Virginia Mason Franciscan Health, Tacoma, Washington, USA.

    Papers in Europe PMC
  2. 02
    Escobar MA Jr1 paper · 2025

    Pediatric Surgical Services, Mary Bridge Children's Hospital and Health Center, Tacoma, Washington, USA mauricio.escobar@multicare.org.

    Papers in Europe PMC
  3. 03
    Espinoza Tristán SI1 paper · 2025

    Radiology, Hospital Regional Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Monterrey, MEX.

    Papers in Europe PMC
  4. 04
    Herrera Alanís JL1 paper · 2025

    Radiology, Hospital Regional Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Monterrey, MEX.

    Papers in Europe PMC
  5. 05
    Regalado Morales OA1 paper · 2025

    Radiology, Hospital Regional Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Monterrey, MEX.

    Papers in Europe PMC
  6. 06
    Valdés Hernández M1 paper · 2025

    Radiology, Hospital Regional Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Monterrey, MEX.

    Papers in Europe PMC
  7. 07
    Valdés Mancha A1 paper · 2025

    Radiology, Hospital Regional Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Monterrey, MEX.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment 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 above — 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 2026-07-26

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 below but are not added to the query string.

"Spigelian hernia-cryptorchidism syndrome"

Run this search on Europe PMC

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

"Spigelian hernia-cryptorchidism syndrome"

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

Cross-references (from Mondo): UMLS:C4751074

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

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