|Embryology - 15 Dec 2019 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 malformations including 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.
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.|
- 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.
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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. (2019, December 15) Embryology VACTERL. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/VACTERL
- © Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G