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Start free with EleplanPenoscrotal transposition
ORPHA:2842Morphological anomaly
What it 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).
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, Not applicable, X-linked recessive
- Classified as
- Morphological anomaly
Signs and symptoms
Very common80–99%
15- Abnormal external genitalia
- Abnormality of the genital system
- Abnormality of the ureter
- Abnormality of the urethra
- Bilateral single transverse palmar creases
- Cardiomyopathy
- Cerebral cortical atrophy
- Clinodactyly of the 5th finger
- Hypospadias
- Micrognathia
- Pectus carinatum
- Penoscrotal transposition
- Renal agenesis
- Renal dysplasia
- Wide intermamillary distance
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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