What is lumbar sacral agenesis?
Specialty. Medical genetics. Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. It occurs at a rate of approximately one per 60,000 live births.
What causes Caudal Regression Syndrome?
The exact cause of caudal regression syndrome is unknown. Researchers believe that both environmental and genetic factors may play a role in the development of the disorder. Most cases appear to occur randomly for no apparent reason (sporadically), which suggests environmental factors or a new gene mutation.
Can people with Caudal Regression walk?
Ambulation in the home may be possible for cases with middle lumbar level but the community ambulation is not possible. Functional ambulation may be possible for cases with lower lumbar level. Cases with lower lumbar and sacral levels may live independently.
What causes sacral agenesis?
How does sacral agenesis happen? The cause of sacral agenesis is unclear but it has a well-known association with diabetes in pregnancy. Mothers exposed to organic fat solvents, embryonal trauma, radiation, lithium salts, etc. may be at risk of having babies with sacral agenesis.
Can you walk if you have sacral agenesis?
Lower limb complications can range from very minor walking difficulties or abnormalities, to complete paralysis of the lower limbs requiring the use of a wheelchair. Some children with sacral agenesis may also have lower leg deformities which may require orthoses or corrective surgery.
Can you see caudal regression syndrome on ultrasound?
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks’ of gestation by ultrasound examination.
Can people with sacral agenesis walk?
How common is spina bifida occulta?
Spina bifida occulta is common and happens in about 1 out of 10 people. Usually, spina bifida occulta causes no health problems.