What are the symptoms? If there is damage to nerve function in sacral agenesis, problems can include: constipation (reduced bowel movement) due to the bowel and the bowel sphincters being affected faecal incontinence (where a person is unable to control the removal of faeces from the body) due to the bowel and the bowel sphincters being affected urinary incontinence and urinary tract infections due to the bladder and the urinary sphincters being affectedkidney damage could occur as the bladder may store and empty urine at abnormally high pressurethere can be varying degrees of paralysis affecting the lower limbs if the nerves coming from the sacrum are abnormal. This can vary from minor problems with gait (the pattern of movement of the limbs) to total paralysis. What are the causes? Although in the majority of cases there is no clear cause of sacral agenesis, there is a clear association with insulin-dependent diabetes in the mother. Sacral agenesis may also be associated with abnormal development in other organs such as the anus/rectum, the bones and joints of the leg and the other bones in the spine. When these occur together this is referred to as Caudal Regression syndrome. How is it diagnosed? Most cases are only detected after birth. Sometimes the condition may be discovered later when the child is older and has problems with constipation, incontinence, urinary tract infections or abnormalities with gait. All patients with sacral agenesis will need to be assessed by a medical specialist with an interest in bowel and bladder problems, the neurology of the lower limbs and, probably, a specialist paediatric orthopaedic surgeon. A simple X-ray of the spine will usually diagnose the condition. Once the diagnosis is confirmed, all patients will require a magnetic resonance imaging (MRI) scan. How is it treated? There are a wide variety of treatments available to improve and control all of the problems arising due to sacral agenesis. It is now possible to achieve both faecal and urinary continence. It is also possible to safely protect the kidneys from damage due to the abnormal bladder. Inheritance patterns and prenatal diagnosis Inheritance patterns There is an increased association between the development of sacral agenesis and diabetes in the mother. However, most cases of sacral agenesis arise sporadically (with no previous family history). Like all abnormalities of the development of the spine and spinal cord, if a parent has one child affected, there is an increased risk of further children being affected. Affected families should be referred to a genetics service for further information and support. Prenatal diagnosis Prenatal diagnosis is possible, but is unusual. Affected families should be referred to their local genetics centre for further information and support. Is there support? Sacral Agenesis Contact Group Tel: 02380 842 661 The Group offers information and support to anyone affected by Sacral Agenesis. Group details last updated December 2014.