A very rare syndrome characterized mainly by the abnormal development of the tailbone (sacrum). See also Sacral agenesis
Lumbosacral agenesis, also known as sacral agenesis, is a rare congenital disorder that affects the development of the lower spine and pelvis. It is a type of neural tube defect that occurs when the neural tube, which forms the central nervous system, fails to close properly during embryonic development.
Lumbosacral agenesis is characterized by the absence of the sacrum and/or lumbar vertebrae, which can cause a range of symptoms depending on the severity of the condition. Common symptoms include leg weakness or paralysis, foot deformities, bowel and bladder dysfunction, and scoliosis. In severe cases, individuals may also have abnormalities of the kidneys, heart, and other organs.
The exact cause of lumbosacral agenesis is not fully understood, but it is believed to be a combination of genetic and environmental factors. Some cases may be caused by a mutation in a specific gene, while others may be caused by exposure to certain medications or toxins during pregnancy.
There is no cure for lumbosacral agenesis, and treatment options depend on the specific symptoms and severity of the condition. Treatment may include physical therapy, occupational therapy, and surgery to correct any associated deformities or to improve function. Individuals with lumbosacral agenesis may also require ongoing medical management for associated conditions such as bowel and bladder dysfunction.
The long-term outlook for individuals with lumbosacral agenesis depends on the severity of their condition and any associated medical conditions. In general, individuals with mild forms of the condition may have a relatively normal lifespan and may be able to live independently with appropriate medical care and support. However, individuals with more severe forms of the condition may have a reduced lifespan and may require ongoing medical care throughout their lives.