VACTERL association: Difference between revisions
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Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Unfortunately, some infants are born with symptoms that cannot be fixed and they do not survive. Causes of this association are debated. Most studies come to prove that it is in genetics however, it is too rare of an association that it has not yet been determined. Also, VACTERL association can be linked to other similar conditions such as [[Klippel Feil]] and [[Goldenhar Syndrome]] including crossovers of conditions. Event hough a child may have some of these conditions they must have all of the letters that form the acronym to be diagnosed with the full phenotype. From January 2003 to January of 2013 among 32 infants 15 (46.8%) was diagnosed with VACTERL association. The most common defects were congenital heart defects with 73.3% and vertebral second with 66.6%.<ref>{{cite journal|last=Placa|first=Simona|coauthors=Mario, Gluffre|title=Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?|date=2013|year=2013|volume=39|issue=1|pages=1-8| |
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Unfortunately, some infants are born with symptoms that cannot be fixed and they do not survive. Causes of this association are debated. Most studies come to prove that it is in genetics however, it is too rare of an association that it has not yet been determined. Also, VACTERL association can be linked to other similar conditions such as [[Klippel Feil]] and [[Goldenhar Syndrome]] including crossovers of conditions. Event hough a child may have some of these conditions they must have all of the letters that form the acronym to be diagnosed with the full phenotype. From January 2003 to January of 2013 among 32 infants 15 (46.8%) was diagnosed with VACTERL association. The most common defects were congenital heart defects with 73.3% and vertebral second with 66.6%.<ref name="pmid23842449">{{cite journal|last=Placa|first=Simona|coauthors=Mario, Gluffre|title=Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?|date=2013|year=2013|volume=39|issue=1|pages=1-8|doi=10.1186/1824-7288-39-45|pmid=23842449}}</ref> |
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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| author=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> |
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| author=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> |
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Revision as of 07:04, 1 November 2013
 | This article needs additional citations for verification. (February 2013) |
| VACTERL association | |
|---|---|
| Specialty | Medical genetics  |
History
VATER association was first described in 1972 by Quuan and Smith as an acronym which defines a non-random co-occurrence of the defects listed below. Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to "VACTERL." 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 rebel defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the visual and physical defects vary from case to case.
VACTERL association (also VATER syndrome) is a non-random association of birth defects. The reason it is called an association, rather than a syndrome is that while the complications are not pathogenically related they tend to occur together more frequently than expected by chance. In general, the etiology of "associations" are not defined.
Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Unfortunately, some infants are born with symptoms that cannot be fixed and they do not survive. Causes of this association are debated. Most studies come to prove that it is in genetics however, it is too rare of an association that it has not yet been determined. Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar Syndrome including crossovers of conditions. Event hough a child may have some of these conditions they must have all of the letters that form the acronym to be diagnosed with the full phenotype. From January 2003 to January of 2013 among 32 infants 15 (46.8%) was diagnosed with VACTERL association. The most common defects were congenital heart defects with 73.3% and vertebral second with 66.6%.[1]
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.[2]
VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.
Features
The following features are observed with VACTERL association:[3][4]
- V - Vertebral anomalies
- A - Anal atresia
- C - Cardiovascular anomalies
- TE - Tracheoesophageal fistula
- R - Renal (Kidney) and/or radial anomalies
- L - Limb defects
It is yet not conclusive whether VACTERL should be defined by at least two or three component defects.[5]
Vertebral defects
Vertebral anomalies, or defects of the spinal column, usually consist of small (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.[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. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.
Anal defects
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.
Cardiac defects
Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease.[citation needed] The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. Less common defects are truncus arteriosus and transposition of the great arteries. It is subsequently thought that cardiac defects should be considered an extension of VACTERL.[5]
Tracheo-esophageal fistula defects
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. Fifteen percent 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.
Renal / Kidney defects
Renal (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 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.
Limb defects
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, and cardiac defects are thought to fit in this category.[5]
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.
Epidemiology
The VACTERL association has an estimated incidence of 16 cases per 100,000 live births. It is seen more frequently in infants born to diabetic mothers. It is rarely seen more than once in one family.
Pathology
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome
See also
- 22q11 deletion syndrome
- Absent radius
- CHARGE Association
- Feingold syndrome
- Pallister-Hall syndrome
- Townes-Brocks syndrome
References
- ^ Placa, Simona (2013). "Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?". 39 (1): 1–8. doi:10.1186/1824-7288-39-45. PMID 23842449.
{{cite journal}}: Cite journal requires|journal=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help)CS1 maint: date and year (link) CS1 maint: unflagged free DOI (link) - ^ Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G (2002). "Developmental field defects: coming together of associations and sequences during blastogenesis". Am J Med Genet. 110 (4): 320–3. doi:10.1002/ajmg.10429. PMID 12116204.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Gigante, Joseph (2006). First Exposure to Pediatrics. New York: McGraw-Hill, Medical Pub. Division. p. 351. ISBN 978-0071441704.
- ^ Shaw-Smith, C (2006 Jul). "Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology". Journal of medical genetics. 43 (7): 545–54. doi:10.1136/jmg.2005.038158. PMID 16299066.
{{cite journal}}: Check date values in:|date=(help) - ^ a b c Rittler, M (1996 Jun 28). "VACTERL association, epidemiologic definition and delineation". American journal of medical genetics. 63 (4): 529–36. PMID 8826430.
{{cite journal}}: Check date values in:|date=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ "VACTERL association". Genetics Home Reference. Retrieved 29 October 2012.
Further reading
- McMullen, KP (1996 Jun 28). "Familial recurrence of tracheoesophageal fistula and associated malformations". American journal of medical genetics. 63 (4): 525–8. PMID 8826429.
{{cite journal}}: Check date values in:|date=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help)
External links
- VACTERL Support Group Forums -VACTERL Association Family network
- VACTERL Support Group -VACTERL Connection Forums
- VACTERL or VATER Association -Cincinnati Children's Hospital Medical Center
- VATER/VACTRL Association - University of Kansas Medical Center page with links to various information and support site
- VACTERL Association Support Group (UK)