Sacral agenesis

Sacral agenesis (or hypoplasia of the sacrum) is a little known and rather infrequent congenital condition of spinal deformity affecting the sacrum - the caudal partion of the spine. It occurs at a rate of approximately 1 of 25,000 live births. more...

Etiology

The condition arises from a set of conditions present during approximately the 3rd week to 7th week of fetal development. Formation of the sacrum/lower back and corresponding nervous system is usually nearing completion by the 4th week of development. While the exact etiology is unknown, the condition may be associated with certain dietary deficiencies including a lack or insuffient amounts of folic acid or other developmental aids. The condition may also be associated with or resultant of maternal diabetes.

Prognosis

There are four levels (or "types") of malformation. The least severe indicates partial formation (unilateral) of the sacrum. The second level indicates a billateral (uniform) deformation. And the most severe types involve a total absence of the sacrum.

Depending on the type of sacral agenesis - bowel or urinary bladder deficiencies may be present. A permanent colostomy may be necessary in the case of imperforate anus. Incontinence may also require some type of continence control system (e.g. self-catheterization) be utilized. Occasionally if deformities of the knees, legs or feet would prove unresponsive to corrective action - amputation at the knee may be proposed.

Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed.

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