|Embryology - 23 Apr 2021 Expand to Translate|
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|ICD-11 - LD2F.11 VATER association - VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.|
VACTERL/VATER are the acronyms used to describe a multi-system congenital malformation identified in the early 1970's and includes at least three of the following:
- Vertebral defects
- Anal atresia
- Cardiac defects
- Tracheo-esophageal fistula
- Renal anomalies
- Limb abnormalities
There is an additional identified form of VACTERL with hydrocephalus and perhaps several other associations exist.
VACTERL/VATER prevalence and incidence data have been difficult to ascertain due to variable diagnostic criteria. Some reports suggest less than 1-9/100,000 infants, and the annual incidence has been reported to be 1/10,000 to 1/40,000 live births.
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
|These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.|
|Vertebral anomalies||X-ray; ultrasound and/or MRI of the spine||X-ray may not show subtle spinal anomalies, and will be unable to detect associated anomalies such as tethered cord or syrinx|
|Anal atresia||Physical examination/observation, abdominal ultrasound for genitourinary anomalies||Additional testing is typically required to define anatomy, especially if concomitant genitourinary anomalies are present|
|Cardiac malformations||Echocardiogram||Other, more precise techniques, such as cardiac CT or MRI may be helpful to further detail anomalies|
|Tracheo-esophageal fistula||Physical examination/observation (contrast studies are rarely required)||Patients with VACTERL association but without true TEF may still present with swallowing/breathing anomalies, and clinicians should have a low index of suspicion for confirmatory radiological testing|
|Renal anomalies||Renal ultrasound||Further testing, such as a voiding cystouerethrogram, may be required in the presence of renal anomalies or if there is other evidence of issues such as vesicoureteral reflux|
|Limb anomalies||Physical examination, X-ray||Important not to overlook, as the presence of limb anomalies often prompts testing for Fanconi anemia|
|Suggested testing for patients (in addition to a careful physical examination by an experienced clinician) suspected to have VACTERL association. Specific modalities used should be dictated by the risk-benefit ratio for the specific situation.|
|Table reference  Links: VACTERL | vertebra | heart | renal | limb|
Hemi-vertebra noted in lumbo-sacral region of spine (arrow)
Endocardial cushion defect in form of absent crux. (arrow). (Right) Tricuspid regurgitation.
Esophageal atresia identified by the coiling of nasogastric tube (yellow arrow). Note also the limb anomaly of absent right radial ray bones (red arrow).
- Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F & Reutter H. (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res , , . PMID: 30887706 DOI.
- Jesse C, Jonathan S, Jeremy N & June K. (2019). A rare case of laryngeal cleft in association with VACTERL and malrotation. Radiol Case Rep , 14, 315-319. PMID: 30546815 DOI.
- Solomon BD. (2011). VACTERL/VATER Association. Orphanet J Rare Dis , 6, 56. PMID: 21846383 DOI.
- Gaur NK & Gokhale S. (2018). VACTERL association - Ultrasound findings and autopsy correlation. Indian J Radiol Imaging , 28, 452-455. PMID: 30662209 DOI.
- Chauhan S et al. Int J Contemp Pediatr. 2017 Jul;4(4):1551-1553 http://www.ijpediatrics.com
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- OMIM 192350 VATER/VACTERL ASSOCIATION
- OMIM 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS
- OMIM VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
- OMIM 140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6
- OMIM 142989 HOMEOBOX D13; HOXD13
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Cite this page: Hill, M.A. (2021, April 23) Embryology ZP2. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Template_talk:ZP2
- © Dr Mark Hill 2021, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G