Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Veins of Thorax01:19

Veins of Thorax

The azygos system is a crucial part of the body's circulatory system and drains most of the thorax. It comprises the azygos, hemiazygos, and accessory hemiazygos veins.
The azygos vein, positioned just right of the midline and anterior to the vertebral column, begins at the junction of the right ascending lumbar and subcostal veins, terminating in the superior vena cava. This vein drains blood from the right side of the thoracic wall, thoracic viscera, and posterior abdominal wall.
The...
Veins of the Abdomen and Pelvis01:18

Veins of the Abdomen and Pelvis

The human body is a complex system of interconnected parts, and the circulatory system plays a crucial role in maintaining overall health. One key component of this system is the inferior vena cava, a large vein responsible for returning blood from the abdominopelvic viscera and abdominal walls to the heart.
The inferior vena cava is fed by numerous smaller veins. The lumbar veins, for instance, drain the posterior abdominal wall, emptying both directly into the inferior vena cava and into the...
Imaging Studies VI: Voiding Cystourethrography and Cystography01:22

Imaging Studies VI: Voiding Cystourethrography and Cystography

Voiding Cystourethrography (VCUG) and Cystography are specialized radiographic procedures used to examine the structure and function of the bladder and urethra.Voiding Cystourethrography (VCUG)A Voiding Cystourethrogram (VCUG) is a diagnostic imaging procedure that assesses the anatomy and function of the lower urinary tract. It focuses on the bladder, bladder neck, and urethra, helping detect abnormalities such as vesicoureteral reflux (VUR)—the backward or reverse flow of urine into the...
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies01:20

Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies

The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
Esophageal Varices-I: Introduction01:24

Esophageal Varices-I: Introduction

Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...
Varicose Veins II: Diagnostic Studies and Interprofessional Care01:26

Varicose Veins II: Diagnostic Studies and Interprofessional Care

Varicose veins, or varicosities, develop when the valves in the veins, which control blood flow, weaken or damage. It causes blood to pool and the veins to enlarge. Understanding the clinical manifestations, diagnostic approaches, and management options for varicose veins is crucial for effective treatment and relief.Clinical manifestationsClinical manifestations of varicose veins include a heavy, achy feeling or pain after prolonged standing or sitting. This discomfort can often be relieved by...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Artificial Intelligence-Based Chatbots in Genetic Counseling Practice: Current Uptake, Utilization, and Perspectives.

medRxiv : the preprint server for health sciences·2026
Same author

Looked but didn't see: inattentional blindness and yes-bias confabulation in vision-language models.

medRxiv : the preprint server for health sciences·2026
Same author

Disparate language and model effects on AI-based translation and recognition of genetic conditions.

Journal of the American Medical Informatics Association : JAMIA·2026
Same author

Letter to the Editor Regarding "Expanding the Phenotypic Expression of Sonic Hedgehog Mutations Beyond Holoprosencephaly".

The Journal of craniofacial surgery·2026
Same author

Artificial intelligence in genomic medicine: dispelling three myths.

NPJ genomic medicine·2026
Same author

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·2025
Same journal

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.

Orphanet journal of rare diseases·2026
Same journal

Mortality trends and socioeconomic inequalities in sickle cell disease in Colombia, 2012-2023: a population-based study.

Orphanet journal of rare diseases·2026
Same journal

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Orphanet journal of rare diseases·2026
Same journal

Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy.

Orphanet journal of rare diseases·2026
Same journal

Fatigue and pain in children with multiple osteochondromas: a cross-sectional study.

Orphanet journal of rare diseases·2026
Same journal

Health service access and delivery for people living with rare disorders: a scoping review.

Orphanet journal of rare diseases·2026
See all related articles

Related Experiment Video

Updated: May 30, 2026

Technical Aspects of the Mouse Aortocaval Fistula
06:12

Technical Aspects of the Mouse Aortocaval Fistula

Published on: July 11, 2013

VACTERL/VATER Association.

Benjamin D Solomon1

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35/Room 1B-207, Bethesda, MD 20892, USA. solomonb@mail.nih.gov

Orphanet Journal of Rare Diseases
|August 18, 2011
PubMed
Summary
This summary is machine-generated.

VACTERL/VATER association is a rare condition involving multiple congenital malformations. While its exact causes are still being researched, early diagnosis and surgical intervention improve patient outcomes.

More Related Videos

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye
09:52

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye

Published on: September 5, 2011

Related Experiment Videos

Last Updated: May 30, 2026

Technical Aspects of the Mouse Aortocaval Fistula
06:12

Technical Aspects of the Mouse Aortocaval Fistula

Published on: July 11, 2013

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye
09:52

Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye

Published on: September 5, 2011

Area of Science:

  • Pediatric Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • VACTERL/VATER association is characterized by at least three specific congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
  • The estimated incidence ranges from 1 in 10,000 to 1 in 40,000 live births, with a broad differential diagnosis including numerous other genetic syndromes.
  • The etiology remains largely unknown due to clinical and genetic heterogeneity, sporadic occurrence, and overlapping conditions.

Purpose of the Study:

  • To summarize the defining features, incidence, diagnostic challenges, and management of VACTERL/VATER association.
  • To highlight the importance of differentiating VACTERL/VATER association from similar congenital anomaly syndromes.
  • To underscore the potential for future genetic research to elucidate the causes of this complex disorder.

Main Methods:

  • Clinical ascertainment based on the presence of characteristic malformations.
  • Exclusion of other known syndromes with similar presentations.
  • Review of current understanding of etiology, diagnosis, and management strategies.

Main Results:

  • VACTERL/VATER association diagnosis relies on identifying at least three core component malformations.
  • Antenatal diagnosis can be difficult, necessitating postnatal clinical evaluation.
  • Management involves prompt surgical correction of anomalies like anal atresia and tracheo-esophageal fistula, followed by long-term care.

Conclusions:

  • Despite diagnostic and etiological complexities, VACTERL/VATER association is identifiable through characteristic malformations.
  • Surgical intervention offers a positive prognosis for many affected individuals, though lifelong management may be required.
  • VACTERL/VATER association is not typically associated with neurocognitive impairment.