prune belly syndrome
Findings
No curated finding names prune belly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.
Definition from the Mondo Disease Ontology (MONDO:0007032), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital posterior urethral valveHPOHP:0010957
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Slow pupillary light responseHPOHP:0030211
- 6 of 6 reported patients
- XerostomiaHPOHP:0000217
- 6 of 6 reported patients
- Abnormality of the bladderHPOHP:0000014
- Very frequent (80% to 99% of cases)
- Abnormality of the ureterHPOHP:0000069
- Very frequent (80% to 99% of cases)
- Aplasia of the abdominal wall musculatureHPOHP:0005199
- Very frequent (80% to 99% of cases)
Show the remaining 25
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- Frequent (30% to 79% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Frequent (30% to 79% of cases)
- OligohydramniosHPOHP:0001562
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Recurrent urinary tract infectionsHPOHP:0000010
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHRM3HGNC:1952
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: prune belly syndrome
- Also called
- abdominal muscle deficiency syndromeeagle-Barret syndromeObrinsky syndromeObrisnksy syndromesyndrome of agenesis of abdominal musclestriad syndrome