The prune belly cloaca: Defining a distinct and high-morbidity female phenotype

Persistent cloaca is a rare congenital malformation that can present with significant phenotypic variability. A subset of female cloaca patients presents with significant abdominal distension and deficient abdominal musculature, representing a distinct "prune belly-like" phenotype with unique challenges for neonatal care and surgical management.

We aimed to describe this cohort and its implications for pre- and post-natal interventions.

A retrospective review of female patients diagnosed with persistent cloaca at a single institution between January 2010 and May 2026 with abdominal features consistent with prune belly syndrome (PBS) was performed. Data concerning prenatal diagnoses and interventions, neonatal course, surgical procedures, and imaging or exam findings were collected.

Seventy-five patients with persistent cloaca were identified, of whom eight met the inclusion criteria. Mean gestational age was 34w2d (±22d) and median age at last follow up was 5.5 years [2.6-10.9 years]. All patients were White, six of Hispanic ethnicity. All required intubation immediately after birth for severe neonatal respiratory distress and/or pulmonary hypoplasia and had a median NICU stay of 106 days [80, 189], significantly longer than the median stay of persistent cloaca without PBS features (34.5 days [19, 60], p = 0.001). Additionally, all patients with PBS features were found to have hydrocolpos and/or megacystis on postnatal imaging, only present in 43% of those without PBS features. The patients were all managed with cutaneous vesicostomy and colostomy, except for one who died within 24 h of birth. Mean common channel length was 3.8 ± 1.9 cm; six patients have undergone definitive repair at a median age of 2.5 years [1.2-3.4]. Recurring features between patients included hydronephrosis or hydroureteronephrosis (8/8), grade V vesicoureteral reflux (4/8), some degree of Müllerian duplication (5/8), chronic kidney disease stage 4 or 5 (4/8), and orthopedic anomalies (5/8).

This series defines a unique prune belly cloacal phenotype characterized by abdominal wall attenuation alongside complex medical and surgical comorbidities. Findings support the mechanical disruption model of prune belly syndrome in which in-utero urinary tract obstruction and distension impair development of the abdominal wall. These patients face high rates of respiratory compromise at birth, prolonged neonatal intensive care, and delayed definitive cloacal repair compared with the broader persistent cloaca population.