Prune belly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: EAGLE-BARRETT SYNDROME
PRUNE BELLY SYNDROME
EGBRS
Urethral obstruction sequence
Eagle-Barret syndrome
Number of Symptoms 52
OrphanetNr: 2970
OMIM Id: 100100
ICD-10: Q79.4
UMLs: C0033770
C0265363
MeSH: C536477
D011535
MedDRA: 10051025
Snomed: 18241005
5187006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
X-linked recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic nonsyndromic renal or urinary tract malformation
 -Rare genetic disease
Nonsyndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare renal disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
2
 (HPO:0100779) Urogenital sinus anomaly Occasional [Orphanet] 5 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
5
 (HPO:0000010) Recurrent urinary tract infections Frequent [Orphanet] 56 / 7739
6
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
7
 (HPO:0000795) Abnormality of the urethra Very frequent [Orphanet] 38 / 7739
8
 (HPO:0010957) Congenital posterior urethral valve 9 / 7739
9
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
10
 (HPO:0000028) Cryptorchidism 347 / 7739
11
 (HPO:0000126) Hydronephrosis 119 / 7739
12
 (HPO:0000076) Vesicoureteral reflux Very frequent [Orphanet] 94 / 7739
13
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
14
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
15
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
16
 (HPO:0000217) Xerostomia 35 / 7739
17
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
18
 (HPO:0000768) Pectus carinatum 136 / 7739
19
 (HPO:0001374) Congenital hip dislocation 51 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
22
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
23
 (HPO:0000887) Cupped ribs 9 / 7739
24
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
25
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
26
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
27
 (HPO:0002580) Volvulus Occasional [Orphanet] 10 / 7739
28
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
29
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
30
 (HPO:0004392) Prune belly 4 / 7739
31
 (HPO:0005199) Aplasia of the abdominal wall musculature 5 / 7739
32
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
33
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
34
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
35
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
36
 (HPO:0000951) Abnormality of the skin 147 / 7739
37
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
38
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
39
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
40
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
41
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
42
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
43
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
45
 (OMIM) Visible intestinal pattern (so-called 'prune belly') 1 / 7739
46
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
47
 (OMIM) Thin, lax, protruding abdominal wall 1 / 7739
48
 (OMIM) Wrinkled abdominal skin 1 / 7739
49
 (OMIM) Distended bladder 2 / 7739
50
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
51
 (OMIM) Impaired pupillary constriction to light 1 / 7739
52
 (OMIM) Fetal urinary tract obstruction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Clinical Description OMIM This condition was first described by Frolich (1839). The appellation 'prune belly syndrome' is descriptive because the intestinal pattern is evident through the thin, lax, protruding abdominal wall in the infant (Osler, 1901). (Osler did not use the ...
Molecular genetics OMIM In a consanguineous Turkish family with posterior urethral valve/prune belly syndrome, previously studied by Weber et al. (2005), Weber et al. (2011) performed exon capture and massively parallel sequencing and identified a homozygous frameshift mutation in the CHRM3 ...
Population genetics OMIM In British Columbia, Baird and MacDonald (1981) found that the incidence of prune belly syndrome between 1964 and 1978 was 1 in 29,231 live births.