Frequently asked questions

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.

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.

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)

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/

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

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

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?”

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..

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

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.

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.

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.

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