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== VACTERL association ==
{{SI}}
{{Infobox medical condition
The '''VACTERL association''' (also '''VATER association''' and inaccurately as '''VACTERL syndrome''') refers to a recognized group of [[birth defect]]s which tend to co-occur (see [[VACTERL association#Features|below]]). Note that this pattern is a recognized association, as opposed to a [[syndrome]], because there is no known pathogenetic cause to explain the grouped incidence.
| caption = Diagram showing the features of VACTERL association
| synonyms = VATER association
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Some infants are born with symptoms that cannot be treated and they do not survive. Causes of this association are debated, though it appears to be genetic according to certain studies. Also, VACTERL association can be linked to other similar conditions such as [[Klippel Feil]] and [[Goldenhar Syndrome]] including crossovers of conditions.
| pronounce =
| specialty = [[Medical genetics]]
No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as [[Trisomy 18]] and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.<ref name="pmid12116204">{{cite journal|vauthors=Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G | title=Developmental field defects: coming together of associations and sequences during blastogenesis. | journal=Am J Med Genet | year= 2002 | volume= 110 | issue= 4 | pages= 320–3 | pmid=12116204 | doi=10.1002/ajmg.10429 | pmc= | url= }}</ref>
| treatment = Surgical correction of anomalies, supportive care
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| medication =
wrap = yes
| prognosis = Variable, depends on severity and combination of anomalies
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| frequency = Rare
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| deaths =
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{{Short description|A non-random association of birth defects}}
== Signs and symptoms ==
'''VACTERL association''' is a non-random association of birth defects that affects multiple anatomical systems. The acronym VACTERL stands for:
The following features are observed with VACTERL association:<ref>{{cite book|last=Gigante|first=Joseph|title=First Exposure to Pediatrics|year=2006|publisher=McGraw-Hill, Medical Pub. Division|location=New York|isbn=978-0071441704|page=351}}</ref><ref name=Shaw>{{cite journal|last=Shaw-Smith|first=C|title=Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.|journal=Journal of Medical Genetics|date=July 2006|volume=43|issue=7|pages=545–54|doi=10.1136/jmg.2005.038158|pmid=16299066|pmc=2564549}}</ref>
* '''V'''ertebral anomalies
* V - [[Vertebral anomalies]]
* '''A'''nal atresia
* A - [[Anorectal malformations]]
* '''C'''ardiac defects
* C - [[Cardiovascular anomalies]]
* '''T'''racheo-'''E'''sophageal fistula
* T - [[Tracheoesophageal fistula]]
* '''R'''enal anomalies
* E - [[Esophageal atresia]]
* '''L'''imb abnormalities
* R - [[Kidney|Renal (Kidney)]] and/or [[Radius (bone)|radial]] anomalies
Individuals diagnosed with VACTERL association typically present with at least three of these congenital malformations. The exact cause of VACTERL association is not well understood, but it is believed to result from disruptions in embryonic development.
* L - Limb defects
==Clinical Features==
Although it was not conclusive whether VACTERL should be defined by at least two or three component defects,<ref name="pmid8826430">{{cite journal|last=Rittler|first=M|author2=Paz, JE |author3=Castilla, EE |title=VACTERL association, epidemiologic definition and delineation.|journal=American Journal of Medical Genetics|date=Jun 28, 1996|volume=63|issue=4|pages=529–36|pmid=8826430|doi=10.1002/(sici)1096-8628(19960628)63:4<529::aid-ajmg4>3.0.co;2-j}}</ref> it is typically defined by the presence of at least three of the above congenital malformations.<ref name="pmid21846383">{{cite journal|last=Solomon|first=BD|title=VACTERL/VATER Association.|journal=Orphanet Journal of Rare Diseases|date=Aug 16, 2011|volume=6|pages=56|doi=10.1186/1750-1172-6-56|pmid=21846383|pmc=3169446}}</ref>
===Vertebral Anomalies===
Vertebral anomalies are present in approximately 60-80% of individuals with VACTERL association. These may include [[hemivertebrae]], [[vertebral fusion]], or [[scoliosis]].
=== Spine ===
===Anal Atresia===
Vertebral anomalies, or defects of the spinal column, usually consist of small ([[Hypoplasia|hypoplastic]]) vertebrae or hemivertebra where only one half of the bone is formed. About 80 percent of patients with VACTERL association will have vertebral anomalies.<ref>{{cite web|title=VACTERL association|url=http://ghr.nlm.nih.gov/condition/vacterl-association|publisher=Genetics Home Reference|accessdate=29 October 2012}}</ref> In early life these rarely cause any difficulties, although the presence of these defects on a chest x-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing [[scoliosis]], or curvature of the spine.
Anal atresia, also known as [[imperforate anus]], occurs in about 55-90% of cases. This condition requires surgical intervention shortly after birth to create a functional anal opening.
===Cardiac Defects===
=== Anal defects ===
Cardiac defects are found in 40-80% of individuals with VACTERL association. Common heart defects include [[ventricular septal defect]] (VSD), [[atrial septal defect]] (ASD), and [[tetralogy of Fallot]].
Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.
===Tracheo-Esophageal Fistula===
Tracheo-esophageal fistula (TEF) is present in approximately 50-80% of cases. This condition involves an abnormal connection between the trachea and esophagus, often accompanied by [[esophageal atresia]].
=== Cardiac defects ===
===Renal Anomalies===
Up to 75 percent of patients with VACTERL association have been reported to have [[congenital heart disease]].{{citation needed|date=November 2013}} The most common heart defects seen with VACTERL association are [[ventricular septal defect]] (VSD), [[atrial septal defect]]s and [[tetralogy of Fallot]].
Renal anomalies occur in 50-80% of individuals and may include [[renal agenesis]], [[horseshoe kidney]], or [[hydronephrosis]].
Less common defects are [[Persistent truncus arteriosus|truncus arteriosus]] and [[transposition of the great arteries]]. It is subsequently thought that cardiac defects should be considered an ''extension'' of VACTERL.<ref name="pmid8826430" />
===Limb Abnormalities===
Limb abnormalities are present in 40-50% of cases. These may include [[radial aplasia]], [[polydactyly]], or [[syndactyly]].
=== Trachea and esophagus ===
Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. 15 to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a [[ventricular septal defect]], which may not require any surgery.
=== Kidneys ===
Kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a [[single umbilical artery]] (there are usually two arteries and one vein) which is often associated with additional kidney or urologic problems. Renal abnormalities in VACTERL association can be severe, with [[renal agenesis|incomplete formation of one or both kidneys]] or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause [[kidney failure]] early in life and may require [[kidney transplant]]. Many of these problems can be corrected surgically before any damage can occur.
=== Limbs ===
Limb defects occur in up to 70 percent of babies with VACTERL association and include a displaced or [[hypoplastic thumb]], extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects such as [[radial aplasia]]. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.
=== Extension ===
Features secondary to VACTERL components including single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies like intestinal and respiratory anomalies, and oligohydramnios sequence defects are frequent enough to be considered an extension of VACTERL.<ref name="pmid8826430" /><ref name="pmid6835768">{{cite journal|last=Khoury|first=MJ|author2=Cordero, JF |author3=Greenberg, F |author4=James, LM |author5= Erickson, JD |title=A population study of the VACTERL association: evidence for its etiologic heterogeneity.|journal=Pediatrics|date=May 1983|volume=71|issue=5|pages=815–20|pmid=6835768|url=http://pediatrics.aappublications.org/content/71/5/815}}</ref> Cardiac defects are thought to fit in this category.<ref name="pmid8826430" />
=== Growth ===
Many babies with VACTERL are born small and have difficulty with gaining weight. Babies with VACTERL association, however, do tend to have normal development and normal intelligence.{{citation needed|date=April 2017}}
== Pathology ==
Patients with abnormal cardiac and kidney function may be more at risk for [[hemolytic uremic syndrome]]
==Diagnosis==
==Diagnosis==
=== Differential diagnosis ===
Diagnosis of VACTERL association is primarily clinical, based on the presence of at least three of the characteristic anomalies. Prenatal diagnosis may be possible through [[ultrasound]] and other imaging techniques, but many cases are identified after birth.
* VACTERL with hydrocephalus<ref name="pmid21846383" /><ref name="pmid8172244">{{cite journal|last=Corsello|first=G|author2=Giuffrè, L|title=VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance.|journal=American Journal of Medical Genetics|date=Jan 1, 1994|volume=49|issue=1|pages=137–8|pmid=8172244|doi=10.1002/ajmg.1320490133}}</ref>
==Management==
==Management==
{{Empty section|date=December 2017}}
Management of VACTERL association is multidisciplinary, involving pediatricians, surgeons, cardiologists, and other specialists. Treatment is tailored to the specific anomalies present in each individual and may include surgical correction of defects, supportive care, and ongoing monitoring for complications.
==Prognosis==
== Epidemiology ==
The prognosis for individuals with VACTERL association varies depending on the severity and combination of anomalies. With appropriate medical and surgical management, many individuals can lead healthy lives, although they may require ongoing medical care.
The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants.<ref name="pmid21846383" /> It is seen more frequently in infants born to [[diabetes|diabetic]] mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.
==See also==
* [[Congenital disorder]]
== History ==
* [[Esophageal atresia]]
The acronym ''VATER'' association was first described by Linda Quan, an emergency room physician and David Smith, a man who was considered the father of dysmorphology in 1972 to define a non-random co-occurrence of the listed defects. Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to ''VACTERL''.<ref name="pmid23842449">{{cite journal|last=Placa|first=Simona|author2=Mario, Gluffre |title=Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?|year=2013|volume=39|issue=1|pages=1–8|doi=10.1186/1824-7288-39-45|pmid=23842449|pmc=3726359|journal=Italian Journal of Pediatrics}}</ref> The differentiation of the acronyms VACTERL and VATER is due to the variation in defects determined at or prior to birth. VACTERL contains vertebral, anal, cardiac, trachea-esophogeal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophogeal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the visual and physical defects vary from case to case.
* [[Congenital heart defect]]
* [[Syndrome]]
== See also ==
* [[22q11 deletion syndrome]]
* [[Absent radius]]
* [[CHARGE Association]]
* [[Feingold syndrome]]
* [[Pallister-Hall syndrome]]
* [[Townes-Brocks syndrome]]
== References ==
{{Reflist}}
== Further reading ==
* {{cite journal|last=McMullen|first=KP|author2=Karnes, PS |author3=Moir, CR |author4= Michels, VV |title=Familial recurrence of tracheoesophageal fistula and associated malformations.|journal=American Journal of Medical Genetics|date=Jun 28, 1996|volume=63|issue=4|pages=525–8|pmid=8826429|doi=10.1002/(sici)1096-8628(19960628)63:4<525::aid-ajmg3>3.0.co;2-n}}
== External links ==
{{Medical resources
| DiseasesDB = 13779
| ICD10 = {{ICD10|Q|87|2|q|80}}
| ICD9 =
| ICDO =
| OMIM = 192350
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID =
}}
{{Commons category|VACTERL association}}
{{Phakomatoses and other congenital malformations not elsewhere classified}}
Variable, depends on severity and combination of anomalies
Frequency
Rare
Deaths
A non-random association of birth defects
VACTERL association is a non-random association of birth defects that affects multiple anatomical systems. The acronym VACTERL stands for:
Vertebral anomalies
Anal atresia
Cardiac defects
Tracheo-Esophageal fistula
Renal anomalies
Limb abnormalities
Individuals diagnosed with VACTERL association typically present with at least three of these congenital malformations. The exact cause of VACTERL association is not well understood, but it is believed to result from disruptions in embryonic development.
Vertebral anomalies are present in approximately 60-80% of individuals with VACTERL association. These may include hemivertebrae, vertebral fusion, or scoliosis.
Anal atresia, also known as imperforate anus, occurs in about 55-90% of cases. This condition requires surgical intervention shortly after birth to create a functional anal opening.
Tracheo-esophageal fistula (TEF) is present in approximately 50-80% of cases. This condition involves an abnormal connection between the trachea and esophagus, often accompanied by esophageal atresia.
Diagnosis of VACTERL association is primarily clinical, based on the presence of at least three of the characteristic anomalies. Prenatal diagnosis may be possible through ultrasound and other imaging techniques, but many cases are identified after birth.
Management of VACTERL association is multidisciplinary, involving pediatricians, surgeons, cardiologists, and other specialists. Treatment is tailored to the specific anomalies present in each individual and may include surgical correction of defects, supportive care, and ongoing monitoring for complications.
The prognosis for individuals with VACTERL association varies depending on the severity and combination of anomalies. With appropriate medical and surgical management, many individuals can lead healthy lives, although they may require ongoing medical care.
