Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine. Finally, clustering of phenotypically similar patients can allow better prognostic discussions and medical management decisions (such as highlighting important clinical features that may be more common in patients within a certain cluster) even when the cause is unknown. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. VACTERL is an acronym that describes a non-random constellation of congenital anomalies. At present this condition is treated after birth with issues being approached one at a time. Renal anomalies are reported in approximately 50-80% of patients [8,9,13,15]. If you have one child with Vater syndrome, the risk of having another child with the condition is low (around 1% or 1 in 100).. Childrens Hospital of Philadelphia is a charitable 501(c)(3) nonprofit organization. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Kang S, Graham JM Jr, Olney AH, Biesecker LG. This makes it difficult for you to pass stool (poop) because the opening is either too small or in the wrong place. By Terri Mauro In order to be diagnosed with VATER, a child must have abnormalities in at least three of the characteristic organ systems. Analysis of component findings in 79 patients diagnosed with VACTERL association. National Center for Advancing Translational Sciences. Determining the type and range of findings may also provide insight into the specific type and temporospatial nature of the underlying biological perturbation, which can inform basic and translational studies regarding the pathogenic mechanism. Killoran CE, Abbott M, McKusick VA, Biesecker LG. Others have stressed emphasis on certain "core" features such as TEF or anorectal malformations (ARM) [10]. Orphanet J Rare Dis. A child diagnosed with VATER syndrome will not necessarily have all of these defects but must have at least three for the condition to be diagnosed. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. One explanation for the clustering of features involves the idea of the "developmental field defect", in which malformations that occur in blastogenesis tend to result in polytopic anomalies, or birth defects affecting multiple organ systems. VATER Syndrome: Symptoms, Causes & Treatment - Cleveland Clinic Many children with VACTERL association have limb differences including extra fingers or toes, webbed fingers or toes, missing or underdeveloped thumbs and underdeveloped forearms. In other words, a mutation in a gene known to be a key part of one signaling pathway may in fact have multiple effects across a broad network involving many pathways. In addition to these core component features, patients may also have other congenital anomalies. Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA. VACTERL association | Radiology Reference Article | Radiopaedia.org Its estimated that 1 out of 10,000 to 40,000 babies is born with VACTERL. Some infants are born with symptoms that cannot be treated and they do not survive. The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. Murphy-Kaulbeck L, Dodds L, Joseph KS, Van den Hof M. Single umbilical artery risk factors and pregnancy outcomes. However, as described below (in the section on Diagnosis and diagnostic methods), these clusters may also reflect variable diagnostic criteria, and accurate assignment of individual patients to a given cluster may be complicated by issues such as variable expressivity. in patients with VACTERL association. The differential diagnosis of VACTERL association is broad, and includes a number of conditions for which genetic testing is available (Table (Table1).1). As with many other conditions, the ability to detect features of VACTERL association prenatally, whether through ultrasound or more sophisticated methods such as prenatal echocardiogram or MRI, is very much dependent on the skill and experience of the medical interpreter. As with cardiac malformations, some statistical analyses have suggested that renal anomalies should not be considered one of the defining component features, as they may only be associated with certain features such as ARM [7-9]. Surgical solutions are most common for children with structural symptoms such as anal atresia, esophageal fistula or atresia, cardiac issues and vertebral anomalies. Vater syndrome causes are unknown, and the condition generally isnt well understood. The developmental field concept. Am J Med Genet A. Summary. In several studies, vertebral anomalies, which are commonly accompanied by rib anomalies, have been reported in approximately 60-80% of patients; interestingly, patients may have rib anomalies without vertebral anomalies [7-9,13,15,20]. Congenital malformations of anus and rectum. VATER syndrome isnt a hereditary condition because the condition usually only affects one person in a family (sporadic). Clinicians should thus use these non-typical malformations as a clue in considering possible other conditions, and should be cautioned to look carefully at other organ systems that could aid in the differential diagnosis, such as by obtaining ophthalmologic and audiologic examinations (see Table Table11). We do not endorse non-Cleveland Clinic products or services. Orthopaedic aspects of the VATER association. Tongsong T, Chanprapaph P, Khunamornpong S. Prenatal diagnosis of VACTERL association: a case report. Moldovan GL, D'Andrea AD. 2010 Jun;127(6):731-3. doi: Solomon BD. Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. Imperforate anus/anal atresia as part of an ARM occurs in approximately 55-90% of patients [7-9,13,15]. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence. 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event, (https://www.cdc.gov/ncbddd/birthdefects/index.html#:~:text=What%20are%20Birth%20Defects%3F&text=Every%204.5%20minutes%2C%20a%20baby,more%20parts%20of%20the%20body.&text=CDC%20has%20created%20buttons%20to%20help%20increase%20awareness%20of%20birth%20defects. Terri Mauro is the author of "50 Ways to Support Your Child's Special Education" and contributor to the Parenting Roundabout podcast. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. TEF typically require surgery in the first few days of life, and later complications may occur as well, such as fistula recurrence, reactive-airway disease, and gastro-esophageal reflux [22]. Corsello G, Giuffr L. VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance. The majority of people with VACTERL association have an abnormal anus, including anal atresia (also called imperforate anus) which means the opening of the anus is missing or blocked. [citation needed], Last edited on 23 February 2023, at 21:16, Learn how and when to remove this template message, incomplete formation of one or both kidneys, "Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology", 10.1002/(sici)1096-8628(19960628)63:4<529::aid-ajmg4>3.0.co;2-j, "A population study of the VACTERL association: evidence for its etiologic heterogeneity", "Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype? At least three of these conditions need to be present for a . The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. These can include missing or extra bones, extra ribs, fused bones, abnormally shaped bones or curvature of the spine, known as scoliosis. To rule out other causes with similar symptoms, doctors will visually assess the patient and run a series of tests, including genetics. Extending the scope of the VATER association: definition of the VATER syndrome. Another diagnostic approach involves requiring the presence of spatially disparate anomalies (such as occurring both above and below the diaphragm in the same patient) (see Table Table11 regarding differential diagnosis) [7-15,19]. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Velez JI, Cummings [6] 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. The MURCS association: Mllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. Last reviewed by a Cleveland Clinic medical professional on 08/30/2022. [citation needed], Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence. Because VATER syndrome does not impact intellectual function, a child with significant cognitive challenges would not be diagnosed with the syndrome. In some cases, surgeries might have to be done again as your baby grows or to repair other areas. Morcel K, Camborieux L. Programme de Recherches sur les Aplasies Mllriennes. It is subsequently thought that cardiac defects should be considered an extension of VACTERL. Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W. VACTERL with the mitochondrial np 3243 point mutation. While much remains unresolved, a central and critical question regarding VACTERL association hinges on the causes. Each letter of Vacterl is representing the affected anatomical structure, which can be illustrated as 'V' stands for vertebral abnormalities 'A' stands for anal atresia 'C' stands for cardiac defects Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. VATER syndrome can affect how the vertebrae form during fetal development in the uterus. . It is a complex condition, and different people can have different causes. A complete imperforate anus is often discovered in the immediate postnatal period, typically through routine examination or due to inability to measure the infant's temperature rectally. VACTERL association. Shortly after the initial description, it was proposed that the diagnostic criteria should also include Vascular anomalies (as part of the "V" in VACTERL), including single umbilical artery, or SUA, as part of the definition. Some Vater syndrome symptoms can include: Lots of babies with Vater syndrome are small at birth and grow slowly. Many parents and caretakers find support through genetic counseling after a VATER syndrome diagnosis to help families learn more about their newborns condition. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. What is the prognosis of a genetic condition? Symptoms of VATER syndrome affect different parts of the body (anatomical structure) that can be present at birth (congenital) or appear later in life. Research is ongoing to understand what causes this condition, but studies suggest it could result from a combination of environmental and genetic changes that begin in the early stages of pregnancy when the embryo develops. As the condition is clinically based, testing techniques recommended for patients suspected to have VACTERL association are outlined in Table Table33[22]. Gedikbasi A, Yararbas K, Yildirim G, Yildirim D, Arslan O, Gul A, Ceylan Y. Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. Prenatal diagnosis of VACTERL association. Roughly half of the children with VACTERL association will have some abnormalities of the heart. Felix JF, Tibboel D, de Klein A. Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. [citation needed]. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestil M, Gillerot Y, Mgarban A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. VACTERL association is a disorder that affects many body systems. Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult. One of the most important themes in managing patients with VACTERL association is recognizing that some congenital malformations may be subtle yet medically important, such as vertebral anomalies that can result in severe back pain later in life [22], or renal anomalies that can predispose to infections, nephrolithiasis, and declining renal function.