Prune belly syndrome

Also known as: Eagle–Barrett syndrome

Absent abdominal wall muscles, urinary tract dilation and undescended testes.

Medical specialty: Nephrology
Subspecialty: Nephrology / Congenital anomalies of kidney and urinary tract
Sex & age distribution: Male: affected, 95%; Female: affected, rare; Children: yes, birth
Gene(s) involved: ACTG2, CHRM3, HNF1B

Etiology & mechanism

Early urethral obstruction or mesenchymal defect.

Gene(s) involved (3)

ACTG2CHRM3HNF1B

Symptoms & signs (6)

absent abdominal wall musclescryptorchidismhydrouretermegacystispulmonary hypoplasiawrinkled abdomen

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.