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penoscrotal transposition - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

penoscrotal transposition

MONDO:0017285

Also known as:congenital penoscrotal transpositionpenoscrotal transposition (disease)Prepenile scrotum

Overview

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hypospadias, Abnormality of the ureter, Abnormality of the genital system, and Renal agenesis and others; and common findings: Shawl scrotum, Prominent occiput, Epicanthus, and Dimple chin. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Renal agenesis, Renal dysplasia

Prognosis

Phenotype severity distribution: 15 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for penoscrotal transposition.

11 publications have been identified in PubMed for penoscrotal transposition. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (27%), and Clinical Trial Publication (27%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2842

GARD

Genetic and Rare Diseases Info Center

GARD:4273

Questions for Your Care Team

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Kisho

penoscrotal transposition

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

penoscrotal transposition

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications