Pentalogy of Cantrell
Synonyms: Cantrell deformity · Cantrell syndrome · Thoraco-abdominal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pentalogy of Cantrell | Cantrell deformity · Cantrell syndrome · Thoraco-abdominal syndrome |
| fr | Pentalogie de Cantrell | Syndrome de Cantrell · Syndrome thoraco-abdominal |
| de | Cantrell-Pentalogie | Cantrell-Syndrom · Pentalogie Typ Cantrell · Thorako-abdominales Syndrom |
| es | Pentalogía de Cantrell | Deformidad de Cantrell · Síndrome de Cantrell · Síndrome toracoabdominal |
| it | Pentalogia di Cantrell | Deformità di Cantrell · Sindrome di Cantrell · Sindrome toraco-addominale |
| nl | Pentalogie van Cantrell | Cantrell-misvorming · Syndroom van Cantrell · Thoraco-abdominaal syndroom |
| pt | Pentalogia de Cantrell | Síndrome toraco-abdominal |
| pl | Pentalogia Cantrella | Deformacja Cantrella · Zespół Cantrella · Zespół piersiowo-brzuszny |
| cs | Cantrellova pentalogie | Cantrellova deformita · Torakoabdominální syndrom · Cantrellův syndrom |
| uk | Пентада Кантрелла | Кантрельна деформація · Синдром Кантрелла · Торако-абдомінальний синдром |
| zh | Cantrell五联症 | 胸腹综合征 |
| tr | Cantrell pentalojisi | Cantrell sendromu · Cantrell deformitesi · Torako-abdominal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 313850 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010742 | E | validated | |
| MeSH | D058502 | E | validated | |
| UMLS | C0559483 | E | validated | |
| GARD | 7359 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.55 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Worldwide | Value and class | Validated | 25092102[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001697 | Abnormal pericardium morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001539 | Omphalocele | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0002089 | Pulmonary hypoplasia | |
| Occasional (29-5%) | ||
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0011467 | Absent gallbladder | |
| HP:0002323 | Anencephaly | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000175 | Cleft palate | |
| HP:0002084 | Encephalocele | |
| HP:0000238 | Hydrocephalus | |
| HP:0000047 | Hypospadias | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000202 | Orofacial cleft | |
| HP:0001748 | Polysplenia | |
| HP:0000104 | Renal agenesis | |
| HP:0000110 | Renal dysplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001171 | Split hand | |
| HP:0001883 | Talipes | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1335
- This record as JSON: /data/d/1335.json