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VACTERL Association

Background

'VACTERL' is the name for a group of developmental defects that often occur as a group (or 'association') in newborn babies. 

Credits

Medical text written December 2005 by Mr Bruce Jaffray, Consultant Paediatric Surgeon, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

What are the symptoms?

Babies with health problems in three or more of the seven following areas are identified as having VACTERL:

  • V vertebral (spine/back bone): anomalies in the vertebral bones that form the spine may result in scoliosis or kyphosis (abnormal spinal shapes). There may also be abnormalities in the associated muscles and nerves
  • A anal (back passage): anal problems can vary from a low imperforate anus (an intact bowel with a blind end) to abnormal connections between the bowel and the bladder or vagina. The complexity of surgery required will depend on the severity of the problem
  • C cardiac (heart): the most common type of cardiac abnormality is a ventricular septal defect (VSD) in which there is a hole in the wall that separates the two large chambers of the heart, preventing the heart from functioning efficiently. The impact on the child's health depends on the size of the hole, with surgery being required in more serious cases. Other heart defects may occur in isolation or with a VSD
  • T tracheal (windpipe)
  • E esophageal (food pipe - US spelling of oesophageal used as the term VACTERL originates from the US): tracheo-oesophageal fistula/oesophageal atresia (TOF/OA) is a feature of VACTERL. With OA, the oesophagus (food pipe) forms a closed off pouch that prevents food from reaching the stomach. This can fill up with food and saliva, which can eventually overflow into the trachea (windpipe), entering the lungs and causing choking. With TOF, the oesophagus is connected to the windpipe. This allows air to pass from the windpipe to the food pipe and stomach. It can also allow stomach acid to pass into the lungs. Surgery soon after birth is required, with possible medical interventions later on
  • R renal (kidney): renal problems can be due to the total failure of one or both kidneys to form. Absence of both kidneys can have serious health implications. There are a range of other renal problems that vary in their impact on a child's health. (see entry, Kidney disease)
  • L limb (arms/legs): partial or total failure of the radius (one of the arm bones), and the muscles which attach to it, to develop is common in children with VACTERL. Splints or surgery may be required. There may also be abnormalities with the feet or legs (see entries Upper Limb abnormalities and Lower Limb abnormalities).

Whilst the term 'VACTERL' is not in itself a 'diagnosis', the list of anomalies that occur together helps medical professionals to know what to look for. The severity of the defects can vary considerably from one individual to another.

As well as the problems listed above, there may be associated endocrinopathies (problems with the endocrine system).

Inheritance patterns and prenatal diagnosis

Inheritance patterns 
VACTERL Association occurs sporadically.

Prenatal diagnosis 
Ultrasound scanning can reveal the radial anomaly and oesophageal atresia.

Is there support?

VACTERL Association Support Group

Tel: 01752 482568
Email: support@vacterl-association.org.uk
www.vacterl-association.org.uk

The Group is a parent led support group, established in 2003. It offers information and support to parents, carers and children with VACTERL Association. Has private members online forums through its website and provides opportunities to meet other families.

Group details last updated October 2015.

Support and information on VATER and VACTERL Association is also available from TOFS (see entry  Tracheo-oesophageal Fistula and/or Oesophageal Atresia).

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