What is Caudal Regression Syndrome or Sacral Agenesis?

Caudal regression syndrome or sacral agenesis is a rare congenital disorder which involves the impairment of the lower half (caudal) of the body. The deformed areas of the body mostly seen in this disease are lower back and extremities, gastrointestinal tract, genitourinary tract. Here the lower vertebra of the body, may be missing, with the hips having limited range of motion and underdeveloped bones of leg. Caudal regression syndrome or sacral agenesis is a rare disease in babies and reports suggest that 1 out of every 25,000 child is born with this disease.

In severe cases of Caudal regression syndrome or sacral agenesis, there might be a malformed kidney, abnormalities in the genital area, malrotation of intestine etc. The abnormalities of caudal regression syndrome initiate in the womb when the mother is pregnant. Possible influencing factors and causes of caudal regression syndrome are the mother suffering from diabetes, intense exposure to severe toxins and harmful chemicals, trauma and other nutritional deficiencies. Environmental and genetic factors also play a major role in the causation of caudal regression syndrome. A child severely affected with Caudal regression syndrome or sacral agenesis might not survive and in most cases the child is born dead.

What is Caudal Regression Syndrome or Sacral Agenesis?

Causes of Caudal Regression Syndrome or Sacral Agenesis

Though the exact cause of caudal regression syndrome or sacral agenesis is unknown, studies speculate that the condition may arise due to some dietary deficiencies in mother and certainly because of lack or insufficient amount of folic acid in the diet.

  • Researchers strongly believe that the cause of caudal regression syndrome or sacral agenesis lies in a disturbance during the first and seventh week of the fetus development. The middle layers of growing embryo is responsible for the gastrointestinal and lower body development gets disrupted and this causes the child to born with caudal regression syndrome or sacral agenesis. Disturbance can arise from lesions in the lower vertebrae to severe condition of the child which may also cause complete impairment of the lower limb.
  • Another cause of caudal regression syndrome or sacral agenesis is thought to be the presence of an abnormal artery in the fetus abdomen which actually diverts the total blood supply of the lower part of the body. A theory of researchers also suggests that environmental and the genetic factors can cause vascular disruption, which is a cause of caudal regression syndrome or sacral agenesis. On the diversion of this blood supply, the lower part of the baby fails to develop which becomes a cause of this disease. This may also give rise to different abnormalities in growing stage of gastrointestinal tract, genitourinary tract which gives rise to the caudal regression syndrome or sacral agenesis.

The causes of caudal regression syndrome or sacral agenesis might also differ from one individual to another. Both genetics and environmental are definite causes of caudal regression syndrome. However, the greatest risk of caudal regression syndrome or sacral agenesis is to a child born to a diabetic mother. Approximately 16% of the cases are seen in the children born to diabetic mothers. However, the exact reason of children suffering from this ailment from diabetic mothers isn't fully understood.

The environmental causes that fully contribute to caudal regression syndrome or sacral agenesis aren't known but some potential factors like alcohol, retinoic acid, lack of oxygen in the body and amino acid imbalance are considered as strong contributors to this disease. Researchers are of the view that the environmental & genetic factors combined together produce a teratogenic effect on growing or developing fetus. A teratogen is known to be any substance that disrupts the development of embryo or fetus.

Signs and Symptoms of Caudal Regression Syndrome or Sacral Agenesis

Depending on the region of the body affected by this disease, here are some signs and symptoms of caudal regression syndrome or sacral agenesis.

  • Abnormality in the shape of spine or a missing vertebra from lower spine region
  • The complete absence of the lowest vertebra which is known by sacrum
  • Absence of a part of the spinal cord is also a sign of caudal regression syndrome or sacral agenesis
  • An incomplete complete closure of the lower vertebra region
  • Intense breathing problems due to an abnormal shape of the chest
  • Small hips and bones of the lower leg region. This may also lead to limitation in motion
  • Club feet which go upwards
  • A reduced sensation in the lower leg and back is also a symptom of caudal regression syndrome or sacral agenesis
  • Complete loss of a bladder control
  • Abnormal or unusual path between the anus and vagina region
  • Absence of anal region
  • Twist of intestine
  • Complete absence of genitals
  • Constipation
  • Hernia problem

Treatment of Caudal Regression Syndrome or Sacral Agenesis

Caudal regression syndrome or sacral agenesis is a rare disease and statistics report that only 10 out of one million new born children suffer from this disease. The highest chance of this disease is to babies born to diabetic mothers. Most of the newborns born with caudal regression syndrome or sacral agenesis however, do not survive in the long run. Treatment of Caudal regression syndrome depends on the symptoms and their severity.

Amidst the others who go on to survive might need various surgeries to correct caudal regression syndrome or sacral agenesis. For instance, surgery might be required for a blocked anus, web lower limbs, urinary tract, intestinal malformation etc. In case of skeletal impairment in children, braces and crutches, might be required.

Multiple surgeries are required multiple times to a child born with caudal regression syndrome or sacral agenesis to correct the organs. The surviving child might have normal intellect although the neurological deficiencies might continue. Since caudal regression syndrome is a spectrum of disease, the prognosis also varies in the treatment. Those severely affected require a special medical care and surgeries. Surgeries are required to correct the urological, spinal, limb, gastrointestinal abnormalities. Plus, anticholinergic drugs might be required for treating the urological abnormalities in caudal regression syndrome or sacral agenesis.

The treatment of caudal regression syndrome basically depends upon different symptoms shown by a child. The specialized treatment requires coordinated efforts of specialists like neurosurgeons, urologists, orthopedist surgeons, nephrologists etc. these specialists need to work comprehensively to plan a child`s treatment.

An early intervention and medical care is necessary to ensure effective treatment of caudal regression syndrome or sacral agenesis. This directs towards the stage when the fetus is growing and the mother is supplicated with required nutrition like vitamins, minerals and other essential nutrients.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 16, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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