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Disease Profile
VACTERL association
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q87.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
VATER association
Categories
Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases
Summary
VACTERL association is a non-random association of
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anal atresia |
Absent anus
|
0002023 |
Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ] |
0006703 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Aplasia/Hypoplasia of the radius | 0006501 | |
0000776 | ||
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Tracheoesophageal fistula | 0002575 | |
Vertebral segmentation defect | 0003422 | |
5%-29% of people have these symptoms | ||
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormal sacrum morphology | 0005107 | |
Abnormality of the gallbladder | 0005264 | |
Abnormality of the intervertebral disk | 0005108 | |
Abnormality of the pancreas | 0001732 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anencephaly | 0002323 | |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Finger |
0006101 | |
Hydronephrosis | 0000126 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypospadias | 0000047 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Low-set, posteriorly rotated ears | 0000368 | |
Multicystic kidney dysplasia | 0000003 | |
Non-midline |
0100335 | |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Omphalocele | 0001539 | |
Preaxial hand |
Extra thumb
|
0001177 |
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal nasopharynx morphology | 0001739 | |
Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
Abnormal vertebral morphology | 0003468 | |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Laryngeal stenosis | 0001602 | |
Patent ductus arteriosus | 0001643 | |
Patent urachus | 0010479 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Preaxial polydactyly | 0100258 | |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Renal dysplasia | 0000110 | |
0002650 | ||
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Spina bifida | 0002414 | |
Sporadic |
No previous family history
|
0003745 |
Syndactyly |
Webbed fingers or toes
|
0001159 |
Tethered cord | 0002144 | |
Tetralogy of Fallot | 0001636 | |
Transposition of the great arteries | 0001669 | |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Ureteropelvic junction obstruction | 0000074 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vesicoureteral reflux | 0000076 |
Cause
When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature.[1]
Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a
Diagnosis
(V) Vertebral defects, commonly accompanied by rib anomalies;
(A) imperforate Anus or Anal atresia;
(C) Cardiac (heart) defects;
(T) Tracheo-Esophageal fistula
(E) Esophageal atresia;
(R) Renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys;
(L) Limb abnormalities.
Because these malformations were observed to occur together more often than would be expected by chance alone (but for which no specific cause has been determined), the condition was termed an association. The diagnosis is a diagnosis of exclusion, which means that other conditions need to be ruled out before making a diagnosis of VACTERL.[2]
To make a diagnosis, a genetic doctor will typically conduct a very detailed physical exam, collect a
- Baller-Gerold syndrome
- CHARGE syndrome
- Currarino disease
- 22q11.2 deletion syndrome
- Fanconi anemia
- Feingold syndrome
- Fryns syndrome
- MURCS association
- Oculo-auriculo-vertebral spectrum
- Opitz G/BBB syndrome
- Pallister-Hall syndrome
- Townes-Brocks syndrome
- VACTERL with hydrocephalus
- Alagille syndrome
- Basal cell nevus syndrome
- McKusick-Kaufman syndrome
- Holt-Oram syndrome
- TAR syndrome
Treatment
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral sprectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/
Organizations Providing General Support
-
Pull-thru Network
1705 Wintergreen Pkwy
Normal, IL 61761
Telephone: 309-262-0786
E-mail: [email protected]
Website: https://www.pullthrunetwork.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on VACTERL association. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss VACTERL association. Click on the link to view a sample search on this topic.
References
- Castori M. VACTERL Association. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/vacterl-association/.
- Solomon B. VACTERL/VATER association. Orphanet. December 2011; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=603.
- Nakamura Y & cols. PCSK5 mutation in a patient with the VACTERL association. BMC Res Notes. June 9, 2015; 8:228. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467638/.
- Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. Journal of Medical Genetics. July 2006; 43(7):545-554. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564549/?tool=pubmed.
- Chen Y & cols.. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. Journal of Medical Genetics. 2016; 53(7):431-437. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941148/.
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