VACTERL association

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.

Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.

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.

ORPHANET DEFINITION A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Pattern unknown

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Anal atresia · Very frequent (99-80%)

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Polyhydramnios · Very frequent (99-80%)

The presence of excess amniotic fluid in the uterus during pregnancy.

Premature birth · Very frequent (99-80%)

The birth of a baby of less than 37 weeks of gestational age.

Aplasia/Hypoplasia of the lungs · Very frequent (99-80%)

Tracheal stenosis · Very frequent (99-80%)

Abnormal cardiac septum morphology · Frequent (79-30%)

An anomaly of the intra-atrial or intraventricular septum.

Abnormal cardiovascular system morphology · Frequent (79-30%)

Any structural anomaly of the heart and blood vessels.

Aplasia/Hypoplasia of the radius · Frequent (79-30%)

A small/hypoplastic or absent/aplastic radius.

Congenital diaphragmatic hernia · Frequent (79-30%)

The presence of a hernia of the diaphragm present at birth.

Ectopic kidney · Frequent (79-30%)

A developmental defect in which a kidney is located in an abnormal anatomic position.

Laryngomalacia · Frequent (79-30%)

Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.

Renal agenesis · Frequent (79-30%)

Agenesis, that is, failure of the kidney to develop during embryogenesis and development.

Tracheoesophageal fistula · Frequent (79-30%)

An abnormal connection (fistula) between the esophagus and the trachea.

Vertebral segmentation defect · Frequent (79-30%)

An abnormality related to a defect of vertebral separation during development.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormal intervertebral disk morphology (Occasional (29-5%)); Abnormal morphology of female internal genitalia (Occasional (29-5%)); Abnormal rib morphology (Occasional (29-5%)); Abnormal sacrum morphology (Occasional (29-5%)); Abnormality of the gallbladder (Occasional (29-5%)); Abnormality of the pancreas (Occasional (29-5%)); Abnormality of the urethra (Occasional (29-5%)); Ambiguous genitalia (Occasional (29-5%)); Anencephaly (Occasional (29-5%)); Anorectal anomaly (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Antenatal; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Pattern unknown

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Prevalence at birth: 1-9 / 100 000; Europe; Value and class.

Which doctor should you see?

The suggested department for discussing VACTERL association is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for VACTERL association. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.