Question 1

What is VACTERL Association and how is it diagnosed?

Accepted Answer

VACTERL Association is a rare condition present at birth in which a baby has a combination of differences affecting several parts of the body. These may include the spine, heart, kidneys, limbs, as well as the digestive and respiratory systems. 
VACTERL varies widely between individuals and is diagnosed when at least three of these features are identified through clinical examination and imaging, rather than a single definitive test.
Doctors may also assess for associated conditions to support diagnosis and ensure coordinated, comprehensive care. 
Because multiple body systems may be involved, care is often delivered by a multidisciplinary team.

Question 2

Can VACTERL Association be diagnosed before birth?

Accepted Answer

VACTERL Association may sometimes be suspected before birth; however, it is not consistently identified on prenatal imaging. When multiple relevant anomalies are observed during antenatal scans, clinicians may refer to a “suspected VACTERL pattern”. 
Not all features are necessarily present at birth, some may only become apparent over time as the child develops.

Question 3

Is VACTERL Association genetic?

Accepted Answer

VACTERL is not usually inherited. The exact cause is not fully understood, however, genetics may play a role in some individuals. 
A genetic counsellor can give more tailored guidance. 
Link to What is VACTERL Association (GOSH)

Question 4

Can adults born with VACTERL Association be affected in adulthood?

Accepted Answer

Yes VACTERL is a lifelong condition. Adults can experience ongoing or late-emerging issues for example:
Adults with OA/TOF may experience:
Digestive problems
Reflux
Swallowing difficulties
Gastroparesis/Dumping Syndrome
Breathing or airway problems
Adults with Anorectal Malformations may experience:
Bladder and/or bowel function difficulties
Continence problems
Recurrent urinary infections
Reduced kidney function
Reproductive health, fertility, or pregnancy-related considerations.
Other possible adult impacts include:
Mobility difficulties related to spinal, limb differences
Chronic pain or musculoskeletal strain, mobility difficulties
Fatigue, reduced stamina, or exercise intolerance
Link to: https://rarediseases.org/rare-diseases/vacterl-association/

Question 5

Why might VACTERL Association be missed or diagnosed later?

Accepted Answer

VACTERL can sometimes be missed in childhood or only recognised later in life because it is an association of features rather than a single clearly defined disorder.
Diagnosis depends on recognising a pattern of congenital differences across multiple body systems.

Reasons it may be diagnosed late include:
Not all features are present or obvious at birth
Some abnormalities are mild and only become noticeable later
Medical care may have been split across different specialties, with no one connecting the findings together
Earlier medical records may be incomplete, lost, or unclear
Symptoms may have been treated individually rather than recognised as part of a broader pattern
Awareness of VACTERL association has improved over time, so older patients may not have been assessed using current diagnostic approaches

Question 6

Why do some healthcare professionals appear to be unfamiliar with VACTERL Association?

Accepted Answer

VACTERL association is a rare condition, so many healthcare professionals may never encounter a person with it during their training or career. In adulthood, this can become more noticeable because care often moves from specialist paediatric services into general adult healthcare settings, where familiarity with rare congenital conditions may be lower.
It can help to:
Keep copies of important medical records and clinic letters
Maintain a clear summary of diagnoses, surgeries, medications, allergies, and specialists involved
Use a healthcare passport or medical summary document
Carry emergency information if there are airway, cardiac, or complex surgical considerations
Use resources from rare disease or patient support organisations

Question 7

I think I may have VACTERL Association but don’t have a diagnosis.  What should I do?

Accepted Answer

If you think you may have VACTERL Association but have never received a diagnosis, start by speaking to your GP or another healthcare professional involved in your care. They can review your medical history, current symptoms, and any congenital differences or surgeries you may have had.
Your GP may refer you to a specialist service for further assessment. Depending on your history, this could include genetics, gastroenterology, urology, cardiology, spinal or orthopaedic services, or a multidisciplinary team experienced in complex congenital conditions.

You may find advice in previous FAQ helpful:
“ Why do some healthcare professionals appear to be unfamiliar with VACTERL Association?”

Question 8

Will getting a diagnosis make a difference as an adult?

Accepted Answer

Yes. Receiving a diagnosis of VACTERL Association in adulthood can still make a meaningful difference. Even if treatment does not change immediately, many adults find that having an explanation for lifelong or complex health issues is valuable in itself.
For many people, a diagnosis can help with:
Understanding long-term symptoms.

A diagnosis may connect symptoms and medical issues you have experienced for years, making them easier to understand, manage, and explain to healthcare professionals.
Access to appropriate care and ongoing monitoring

A confirmed diagnosis can support referrals to relevant specialists, such as cardiology, renal, gastroenterology, urology, spinal, or orthopaedic services depending on your individual needs. It may also help identify whether any long-term monitoring is recommended.
Coordinating medical care

Bringing different parts of your medical history together under one recognised condition can improve communication between healthcare providers and reduce the need to repeatedly explain complex history.
Clarity for you and your family

A diagnosis can provide reassurance, validation, and a clearer understanding of how different health issues may be connected. It may also help family members better understand your medical history and support needs.
Practical and support needs

In some situations, a diagnosis may help when accessing support services, workplace adjustments, disability accommodations, or patient support organisations..

Question 9

I have been diagnosed with VACTERL Association, but I think another feature (“letter”) may have been missed. What should I do?

Accepted Answer

If you think another feature (“letter”) of VACTERL Association may have been missed, the best next step is to raise this with your GP or the specialist overseeing your care.
You can ask for:
A review of your medical history, diagnosis, and current symptoms
Consideration of whether further assessment, imaging, genetic review, or specialist referral would be appropriate
It can help to prepare beforehand by writing down:
Your current concerns
A timeline of symptoms or diagnoses
Previous tests, surgeries, or specialist findings
Any changes over time or new symptoms that have appeared in adulthood

Question 10

I was told the problem was “fixed”; why are there still issues?

Accepted Answer

Being told a condition was “fixed” after surgery can be confusing when symptoms continue later in life. In many cases, surgery successfully repairs the structural problem, but it may not completely remove the long-term effects on the body.
This can happen for several reasons, including:
Lasting changes in how the affected area functions
Scar tissue or narrowing that develops over time
Effects on nearby organs, nerves, muscles, or blood supply
If symptoms are affecting you now, it is appropriate to seek reassessment rather than assuming nothing can be done simply because surgery happened in the past.

Question 11

Why isn’t joined-up multidisciplinary care always available for adults with VACTERL Association in the UK?

Accepted Answer

Healthcare for adults with VACTERL Association in the UK is usually provided through the NHS and may involve input from a range of specialists, depending on individual needs. 
This can include:
Respiratory physicians
Surgeons eg: colorectal, cardiac, or orthopaedic specialists
Cardiologists
Urologists or nephrologists (kidney and urinary specialists)
Clinical geneticists
Specialist nurses and therapists
Other allied health professionals, depending on individual needs

However, a fully coordinated multidisciplinary team (MDT) approach is not always available. This is often due to differences in local NHS services, referral pathways, staffing levels, and access to adult specialists with experience in congenital conditions.
As a result, care can sometimes become fragmented, with professionals working separately rather than through a single coordinated service. Some adults may therefore need input from multiple hospitals or departments, with communication between teams varying from area to area. In these situations, individuals and sometimes families or carers may need to take a more active role in coordinating care.
For example by:
Where available, a lead clinician, care coordinator, or transition service can help improve communication and continuity of care.

Requesting referrals between services
Asking for clearer communication between clinicians
Keeping copies of important medical records
Ensuring different specialists are aware of relevant aspects of their medical history.

Question 12

What should I do if I feel my concerns are not being taken seriously?  When should I seek urgent care?

Accepted Answer

If concerns are not being addressed, you can request:
A second opinion
Specialist referral. 
In the UK, guidance such as Martha’s Rule may support this process: https://www.england.nhs.uk/patient-safety/marthas-rule/
Seek urgent medical care if there are sudden, severe, or worrying changes in your health.

Question 13

I would like to connect with other people with VACTERL Association.  How can I do this?

Accepted Answer

You can connect through support groups and communities where people share experiences and advice, such as
Genetic Alliance UK – supports people with genetic and rare conditions
Rare Disease UK – provides information and community links
Facebook groups (search “VACTERL Association support”)
Patient support groups eg: TOFS, Max’s Trust
Link to Useful links - organisations

Frequently asked questions