Cloacal exstrophy

General Information (adopted from Orphanet):

Synonyms, Signs: OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS
Omphalocele - cloacal exstrophy - imperforate anus - spinal defect
OEIS complex
Number of Symptoms 49
OrphanetNr: 93929
OMIM Id: 258040
ICD-10: Q64.1
UMLs:
MeSH:
MedDRA: 10067424
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.75 of 100 000 [Orphanet]
Inheritance: Multifactorial
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Exstrophy-epispadias complex
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
 -Rare urogenital disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000125) Pelvic kidney 10 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0000136) Bifid uterus 6 / 7739
5
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
6
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
7
 (HPO:0001586) Vesicovaginal fistula 4 / 7739
8
 (HPO:0000081) Duplicated collecting system 16 / 7739
9
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
10
 (HPO:0000126) Hydronephrosis 119 / 7739
11
 (HPO:0000039) Epispadias 7 / 7739
12
 (HPO:0008714) Ureterovesical stenosis Occasional [Orphanet] 10 / 7739
13
 (HPO:0000036) Abnormality of the penis Very frequent [Orphanet] 8 / 7739
14
 (HPO:0000066) Labial hypoplasia 10 / 7739
15
 (HPO:0000076) Vesicoureteral reflux Very frequent [Orphanet] 94 / 7739
16
 (HPO:0000028) Cryptorchidism 347 / 7739
17
 (HPO:0000062) Ambiguous genitalia 74 / 7739
18
 (HPO:0010475) Cloacal exstrophy 2 / 7739
19
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
20
 (HPO:0000143) Rectovaginal fistula 18 / 7739
21
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
22
 (HPO:0002937) Hemivertebrae 41 / 7739
23
 (HPO:0010305) Absence of the sacrum 17 / 7739
24
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
25
 (HPO:0008490) Sacral segmentation defect 2 / 7739
26
 (HPO:0011301) Absent foot Frequent [Orphanet] 4 / 7739
27
 (HPO:0000878) 11 pairs of ribs 19 / 7739
28
 (HPO:0002475) Myelomeningocele Frequent [Orphanet] 29 / 7739
29
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
30
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
31
 (HPO:0001374) Congenital hip dislocation 51 / 7739
32
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
33
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
34
 (HPO:0100668) Intestinal duplication Frequent [Orphanet] 2 / 7739
35
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
36
 (HPO:0100548) Exstrophy Very frequent [Orphanet] 4 / 7739
37
 (HPO:0001539) Omphalocele Very frequent [Orphanet] 102 / 7739
38
 (HPO:0002244) Abnormality of the small intestine Frequent [Orphanet] 12 / 7739
39
 (HPO:0001545) Anteriorly placed anus 55 / 7739
40
 (HPO:0005223) Duplicated colon 2 / 7739
41
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
42
 (HPO:0002144) Tethered cord 8 / 7739
43
 (OMIM) Abnormal or absent scrotum 1 / 7739
44
 (HPO:0000238) Hydrocephalus 278 / 7739
45
 (OMIM) Widely separated labioscrotal folds 1 / 7739
46
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
47
 (OMIM) Lipomyelocystoceles 1 / 7739
48
 (OMIM) Symphysis pubis diastasis 1 / 7739
49
 (HPO:0012815) Hypoplastic female external genitalia Very frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a ...
Population genetics OMIM Feldkamp et al. (2011) performed an epidemiologic study of cloacal exstrophy to describe the prevalence, associated anomalies, and maternal characteristics. Feldkamp et al. (2011) used data from the International Clearinghouse Birth Defects Surveillance and Research submitted from 18 ...