penoscrotal transposition
Findings
No curated finding names penoscrotal transposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0017285), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal external genitalia morphologyHPOHP:0000811
- Very frequent (80% to 99% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Very frequent (80% to 99% of cases)
- Abnormality of the ureterHPOHP:0000069
- Very frequent (80% to 99% of cases)
- Abnormality of the urethraHPOHP:0000795
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- CardiomyopathyHPOHP:0001638
- Very frequent (80% to 99% of cases)
Show the remaining 8
- Renal agenesisHPOHP:0000104
- Very frequent (80% to 99% of cases)
- Renal dysplasiaHPOHP:0000110
- Very frequent (80% to 99% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Very frequent (80% to 99% of cases)
- Dimple chinHPOHP:0010751
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Prominent occiputHPOHP:0000269
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: penoscrotal transposition
- Also called
- congenital penoscrotal transpositionpenoscrotal transposition (disease)