ORPHA:93929
Cloacal exstrophy
Synonyms: OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital genitourinary malformation characterized by urogenital, gastrointestinal, skeletal and neurospinal anomalies. It is the most severe part of the spectrum of the exstrophy-epispadias complex (EEC) and is also referred as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defects).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cloacal exstrophy | OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome |
| fr | Exstrophie cloacale | Complexe OEIS · Syndrome d'omphalocèle-exstrophie cloacale-anus imperforé-anomalie spinale · Séquence OEIS · Séquence d'omphalocèle-exstrophie cloacale-anus imperforé-anomalie spinale |
| de | Kloakenekstrophie | OEIS-Komplex · Omphalozele-Kloakenekstrophie-Anus imperforatus-Spinaldefekt-Syndrom |
| es | Extrofia cloacal | Complejo OEIS · Síndrome de onfalocele-extrofia cloacal-ano imperforado-defectos espinales |
| it | Estrofia della cloaca | Complesso OEIS · Onfalocele - estrofia della cloaca - ano imperforato - anomalie spinali |
| nl | Exstrofie van cloaca | OEIS-complex · Omfalocele - cloacale exstrofie - anusatresie - spinaal defect-syndroom |
| pt | Extrofia da cloaca | |
| pl | Wynicowanie kloaki | Kompleks OEIS · Przepuklina pępowinowa - wynicowanie kloaki - zarośnięcie odbytu - defect rdzenia |
| cs | Kloakální extrofie | OEIS komplex · Syndrom zahrnující pupeční kýlu, kloakální extrofii, anální atrézii a páteřní defekt |
| uk | Клоакальна екстрофія | Комплекс ОЕІС · Синдром омфалоцеле-клоакальної екстрофії-імперфорованого ануса-спинномозкового дефекту |
| zh | 泄殖腔外翻 | 脐膨出-泄殖腔外翻-肛门闭锁-脊柱缺损综合征 |
| tr | Kloakal ekstrofi | OEIS kompleksi · Omfalosel-kloakal ekstrofi-imperforat anüs-spinal defekt sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258040 | E | validated | |
| ICD-10 | Q64.1 | NTBT | attributed | validated |
| ICD-11 | LB17.3 | E | specific | validated |
| MONDO | 0009774 | E | validated | |
| MeSH | C537748 | E | validated | |
| UMLS | C1850321 | E | validated | |
| GARD | 4080 | E | validated | |
| MedDRA | 10067424 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:322Exstrophy-epispadias complex
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare renal diseases; rare transplant-related disorders - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Not yet validated | 19878548[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | 19878548[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | United States | Value and class | Validated | 17990338[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Spain | Value and class | Validated | 11251990[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 / 100 000 | Worldwide | Value and class | Not yet validated | 22002951[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000056 | Abnormality of the clitoris | |
| HP:0002836 | Bladder exstrophy | |
| HP:0010475 | Cloacal exstrophy | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001539 | Omphalocele | |
| HP:0000076 | Vesicoureteral reflux | |
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0011301 | Absent foot | |
| HP:0002023 | Anal atresia | |
| HP:0002937 | Hemivertebrae | |
| HP:0002827 | Hip dislocation | |
| HP:0100668 | Intestinal duplication | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002475 | Myelomeningocele | |
| HP:0002414 | Spina bifida | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000086 | Ectopic kidney | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000072 | Hydroureter | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000070 | Ureterocele | |
| HP:0000074 | Ureteropelvic junction obstruction | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93929
- This record as JSON: /data/d/93929.json