ORPHA:887
VACTERL/VATER association
Synonyms: VACTERL association · VATER association · Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | VACTERL/VATER association | VACTERL association · VATER association · Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association |
| fr | Association VACTERL/VATER | Association VACTERL · Association VATER · Association de malformations vertébrales-atrésie anale-anomalies cardiaques-fistule trachéo-oesophagienne-anomalie rénale-anomalie des membres |
| de | VACTERL/VATER-Assoziation | VACTERL-Assoziation · VATER-Assoziation |
| es | Asociación VACTERL/VATER | Asociación VACTERL · Asociación VATER |
| it | Associazione VACTERL/VATER | Associazione VACTERL · Associazione VATER |
| nl | VACTERL/VATER-associatie | VACTERL-associatie · VATER-associatie |
| pt | Associação VACTERL/VATER | Associação VACTERL · Associação VATER |
| pl | Asocjacja VACTERL/VATER | Asocjacja VACTERL · Asocjacja VATER |
| cs | VACTERL/VATER asociace | VACTERL asociace · VATER asociace |
| uk | Асоціація VACTERL/VATER | Асоціація VACTERL · Асоціація VATER · Вади хребта - атрезія анального отвору - вади серця - трахео-стравохідна нориця - аномалії нирок - аномалії кінцівок асоціація |
| zh | VACTERL/VATER联合征 | VACTERL联合征 |
| tr | VACTERL / VATER birlikteliği | VATER asosiasyonu · VACTERL asosiasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192350 | E | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD2F.11 | E | specific | validated |
| MONDO | 0008642 | E | validated | |
| UMLS | C4225671 | E | validated | |
| GARD | 5443 | 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 (4):
- ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXD13 | Candidate gene tested in | Not yet assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 19006232[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.25 / 100 000 | Europe | Value and class | Validated | 21846383[PMID]_[EXPERT]_ ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002023 | Anal atresia | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0002777 | Tracheal stenosis | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000086 | Ectopic kidney | |
| HP:0001601 | Laryngomalacia | |
| HP:0000104 | Renal agenesis | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0001732 | Abnormality of the pancreas | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002323 | Anencephaly | |
| HP:0012732 | Anorectal anomaly | |
| HP:0000048 | Bifid scrotum | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0000126 | Hydronephrosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000239 | Large fontanelles | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0002085 | Occipital encephalocele | |
| HP:0001539 | Omphalocele | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001195 | Single umbilical artery | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/887
- This record as JSON: /data/d/887.json