VACTERL/VATER association

General Information (adopted from Orphanet):

Synonyms, Signs: VACTERL association
VATER association
Number of Symptoms 75
OrphanetNr: 887
OMIM Id: 192350
ICD-10: Q87.2
UMLs: C0220708
C1735591
MeSH: C536495
C536534
MedDRA: 10053665
10066022
Snomed: 27742002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic esophageal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000110) Renal dysplasia 44 / 7739
2
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
3
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
6
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
7
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
8
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
9
 (HPO:0010479) Patent urachus 1 / 7739
10
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
11
 (HPO:0000048) Bifid scrotum Occasional [Orphanet] 36 / 7739
12
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
13
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
14
 (HPO:0000104) Renal agenesis 68 / 7739
15
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
16
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
17
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
18
 (HPO:0000086) Ectopic kidney 29 / 7739
19
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
20
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
21
 (HPO:0000453) Choanal atresia 76 / 7739
22
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
23
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
24
 (HPO:0002085) Occipital encephalocele 20 / 7739
25
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
26
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
27
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
28
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
29
 (HPO:0003974) Absent radius 26 / 7739
30
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
31
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
32
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
33
 (HPO:0000766) Abnormality of the sternum 31 / 7739
34
 (HPO:0009778) Short thumb 50 / 7739
35
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
36
 (HPO:0001159) Syndactyly 140 / 7739
37
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
38
 (HPO:0100258) Preaxial polydactyly 39 / 7739
39
 (HPO:0002414) Spina bifida 47 / 7739
40
 (HPO:0002974) Radioulnar synostosis 52 / 7739
41
 (HPO:0002650) Scoliosis 705 / 7739
42
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
43
 (HPO:0005108) Abnormality of the intervertebral disk Occasional [Orphanet] 12 / 7739
44
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
45
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
46
 (HPO:0001195) Single umbilical artery Occasional [Orphanet] 23 / 7739
47
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
48
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
49
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
50
 (HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
51
 (HPO:0005264) Abnormality of the gallbladder Occasional [Orphanet] 14 / 7739
52
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
53
 (HPO:0002032) Esophageal atresia 19 / 7739
54
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
55
 (HPO:0008897) Postnatal growth retardation 113 / 7739
56
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
57
 (HPO:0001508) Failure to thrive 454 / 7739
58
 (HPO:0001048) Cavernous hemangioma Occasional [Orphanet] 28 / 7739
59
 (HPO:0001669) Transposition of the great arteries 36 / 7739
60
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
61
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
62
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
63
 (HPO:0001629) Ventricular septal defect 316 / 7739
64
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
65
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
66
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
67
 (HPO:0001602) Laryngeal stenosis 21 / 7739
68
 (HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
69
 (HPO:0001199) Triphalangeal thumb 56 / 7739
70
 (OMIM) Spinal dysrhaphia 1 / 7739
71
 (OMIM) Tracheal agenesis 1 / 7739
72
 (HPO:0003745) Sporadic 131 / 7739
73
 (HPO:0002323) Anencephaly Occasional [Orphanet] 28 / 7739
74
 (HPO:0002144) Tethered cord 8 / 7739
75
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by ...
Clinical Description OMIM Finer et al. (1978) reported 2 male sibs with several congenital anomalies suggestive of the VATER association with prominent features of a caudal regression syndrome (see 600145). The older infant had multiple cardiac abnormalities, including transposition of the ...
Molecular genetics OMIM Damian et al. (1996) claimed to have described the first report of a precise molecular basis for a case of VACTERL. They studied a family in which a female infant with VACTERL was born in 1977 and died ...