Difference between revisions of "VACTERL"

From Embryology
Line 1: Line 1:
[[VACTERL|VACTERL]]<noinclude>[[Category:Template]][[Category:Term Link]]][[Category:Abnormal Development]]</noinclude>
| {{ICD-11}} - {{ICD11weblink}}1452617987 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:
# '''V'''ertebral defects
# '''A'''nal atresia
# '''C'''ardiac defects
# '''T'''racheo-'''E'''sophageal fistula
# '''R'''enal anomalies
# '''L'''imb 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.
'''Links:'''  {{vertebra}} | {{heart}} | {{renal}} | {{gastrointestinal tract}} | {{limb}}
{{Prenatal diagnosis}}
==Some Recent Findings==
* '''HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum'''{{#pmid:30887706|PMID30887706}} "The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes. We surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype. We detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants. Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes." [https://www.omim.org/entry/140555 OMIM HSPA6]
* '''A rare case of laryngeal cleft in association with VACTERL and malrotation'''{{#pmid:30546815|PMID30546815}} "We report a rare case of a neonatal girl who presented with coughing and dyspnea immediately after feeds. At birth, she was noted to have an imperforate anus with a posterior fourchette fistula from which she was stooling. Initial imaging with radiography showed a normal bowel gas pattern; however, lumbar vertebral anomalies were noted. An upper GI series was performed and revealed a laryngeal cleft and malrotation. Ultrasound confirmed malrotation with an abnormal SMA-SMV relationship. Since laryngeal cleft is a rare condition and may not be known to most radiologists, its incidence is likely underestimated. It is important to note the association of laryngeal clefts with VACTERL and malrotation. In addition, it is essential not to confuse a laryngeal cleft with a tracheoesophageal fistula since the management differs."
{| class="wikitable mw-collapsible mw-collapsed"
! More recent papers  &nbsp;
| [[File:Mark_Hill.jpg|90px|left]] {{Most_Recent_Refs}}
Search term: [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=search&term=VACTERL ''VACTERL''] | [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=search&term=VATER ''VATER'']
{| class="wikitable mw-collapsible mw-collapsed"
! Older papers &nbsp;
| {{Older papers}}
==VACTERL Diagnosis==
{{VACTERL Diagnosis table}}
==Vertebral Defects==
Hemi-vertebra noted in lumbo-sacral region of spine (arrow){{#pmid:30662209|PMID30662209}}
! Ultrasound
! Autopsy
| [[File:VACTERL - vertebra 01.jpg|400px|alt=VACTERL - vertebra defect]]
| [[File:VACTERL - vertebra 02.jpg|400px|alt=VACTERL - vertebra defect]]
==Anal Atresia==
==Cardiac Defects==
Endocardial cushion defect in form of absent crux. (arrow). (Right) Tricuspid regurgitation.{{#pmid:30662209|PMID30662209}}
[[File:VACTERL - cardiac 01.jpg|600px|alt=VACTERL - cardiac endocardial cushion defect]]
==Tracheo-Esophageal Fistula==
Esophageal atresia<ref>Chauhan S et al. Int J Contemp Pediatr. 2017 Jul;4(4):1551-1553 http://www.ijpediatrics.com</ref> identified by the coiling of nasogastric tube (yellow arrow). Note also the limb anomaly of absent right radial ray bones (red arrow).
[[File:VACTERL - esophageal atresia 01.jpg|600px|alt=VACTERL - esophageal atresia]]
==Renal Anomalies==
==Limb Abnormalities==
== References ==
==External Links==
{{External Links}}
* [https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=603 Orphanet]
* OMIM [https://www.omim.org/entry/192350 192350 VATER/VACTERL ASSOCIATION]
* OMIM [https://www.omim.org/entry/276950 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS]
* OMIM [https://www.omim.org/entry/140555 140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6]
* OMIM [https://www.omim.org/entry/142989 142989 HOMEOBOX D13; HOXD13]
[[Category:Abnormal Development]][[Category:Chromosome]][[Category:Genetics]][[Category:Vertebra]][[Category:Heart]][[Category:Gastrointestinal Tract]][[Category:Renal]][[Category:Limb]]

Revision as of 12:42, 15 April 2019