How do I know if I have Prune Belly Syndrome?

Prune Belly Syndrome, also known as Eagle-Barrett syndrome, is a rare congenital disorder that primarily affects males. It is characterized by a triad of symptoms: absence or severe underdevelopment of the abdominal muscles, undescended testicles, and urinary tract abnormalities. If you suspect you or someone you know may have Prune Belly Syndrome, it is important to consult with a healthcare professional for a proper diagnosis.

Abdominal Muscles: One of the key features of Prune Belly Syndrome is the absence or severe underdevelopment of the abdominal muscles. This can result in a wrinkled or "prune-like" appearance of the abdomen, hence the name. The weakened abdominal muscles may cause various complications, such as difficulty breathing, poor posture, and gastrointestinal issues.

Undescended Testicles: Another common characteristic of Prune Belly Syndrome is undescended testicles, also known as cryptorchidism. In normal development, the testicles descend from the abdomen into the scrotum before birth. However, in individuals with Prune Belly Syndrome, one or both testicles may fail to descend properly. This can lead to fertility issues and an increased risk of testicular cancer.

Urinary Tract Abnormalities: Prune Belly Syndrome often involves abnormalities in the urinary tract. These can include dilated or swollen kidneys, urinary reflux (the backward flow of urine from the bladder to the kidneys), and bladder dysfunction. These urinary tract issues can lead to recurrent urinary tract infections, kidney damage, and other complications.

Other potential signs and symptoms of Prune Belly Syndrome may include skeletal abnormalities, such as joint contractures or clubfoot, respiratory problems, gastrointestinal issues, and developmental delays. However, the severity and combination of symptoms can vary widely among individuals.

If you suspect Prune Belly Syndrome based on the aforementioned symptoms, it is crucial to seek medical evaluation. A healthcare professional will conduct a thorough physical examination, review medical history, and may order additional tests, such as ultrasound, X-rays, or genetic testing, to confirm the diagnosis.

Early diagnosis of Prune Belly Syndrome is important for appropriate management and treatment. While there is no cure for the condition, treatment focuses on addressing specific symptoms and complications. This may involve surgical interventions to correct urinary tract abnormalities, hormone therapy to stimulate testicular descent, and supportive care to manage associated health issues.

Remember, only a qualified healthcare professional can provide an accurate diagnosis and guidance regarding Prune Belly Syndrome. It is essential to consult with a medical expert for personalized advice and care.