Living with Penoscrotal transposition
A rare condition present from birth in which the scrotum sits above and in front of the penis.
Understanding Penoscrotal transposition
It ranges from a simple wrapped-around scrotum to complex cases that also involve the face, brain, heart, gut, or urinary system. Growth delay and intellectual disability may be seen in about 60% of cases. Signs are seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scrotum above and around the penis
- Opening of the urethra on the underside of the penis (hypospadias)
- Kidney and ureter differences
- Small lower jaw (micrognathia)
- Heart muscle disease (cardiomyopathy)
- Curved pinkie finger
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists X-linked and autosomal recessive inheritance. It doesn't name a specific gene.
Also known as: congenital penoscrotal transposition; congenital transposition of the penis; penoscrotal transposition (disease); prepenile scrotum
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Penoscrotal transposition.
Explore research for Penoscrotal transposition
Explore actively recruiting Penoscrotal transposition studies with HealthSpark.
Find actively recruiting studies for Penoscrotal transposition with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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