Caudal regression syndrome
Caudal Regression Syndrome (CRS), also known as Sacral Agenesis, is a rare congenital disorder that affects the development of the lower (caudal) half of the body. It is characterized by abnormal development of the lower spine, which can result in a variety of symptoms and complications.
Etiology[edit | edit source]
The exact cause of Caudal Regression Syndrome is unknown, but it is believed to be multifactorial, involving both genetic and environmental factors. Some studies suggest a link with maternal diabetes, with a higher incidence of CRS in children of diabetic mothers.
Symptoms[edit | edit source]
Symptoms of CRS can vary widely, depending on the severity of the condition. They can range from minor anomalies in the lower spine to severe malformations of the vertebral column, pelvis, and lower limbs. Other possible symptoms include incontinence, constipation, and impaired mobility.
Diagnosis[edit | edit source]
Diagnosis of CRS is typically made based on physical examination and imaging studies, such as X-rays, MRI, or ultrasound. Genetic testing may also be performed to rule out other conditions.
Treatment[edit | edit source]
Treatment for CRS is primarily supportive and depends on the specific symptoms and complications. It may include physical therapy, surgical interventions, and management of associated conditions.
Prognosis[edit | edit source]
The prognosis for individuals with CRS varies widely, depending on the severity of the condition and the presence of associated complications. With appropriate treatment and support, many individuals with CRS can lead fulfilling lives.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Caudal regression syndrome is a rare disease.
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