Caudal regression syndrome (CRS) is a congenital disorder that presents the abnormal development of the caudal (lower) part of the spine in the fetus. This can also include the abnormalities of the genitourinary tract, gastrointestinal tract, the lower back and the limbs. This syndrome may develop as the result of genetic and environmental factors during the embryonic development. This disorder is estimated to affect 1 in 5 per 100,000 live births.
Causes
The exact cause of this syndrome is not known. Caudal regression syndrome appears to develop sporadically meaning there is no history of its prevalence in affected member’s family. The research suggests that environmental and genetic factors trigger the development of this condition. One of the risk factor associated includes a diabetic mother with high blood sugar that may have harming effects on the embryo. The other cause can include any abnormal disruption that affects the fetus around the 28 days of pregnancy that causes problems with the middle part of the embryonic tissue creating the abnormalities associated with the normal development of the skeleton, gastrointestinal and genitourinary system.
Symptoms
The symptoms may vary greatly among the affected cases with some exhibiting milder to severe symptoms. Some of the symptoms include the abnormalities of the lower spine which may in some case be missing, partial closure of the spine around the spinal cord, abnormal curvature of the spine affecting the breathing of the individuals with problems in the normal shaping and size of the chest. The damage of the lower vertebra can cause neurological complications including problems with the bladder and bowel control along with abnormality in urine frequency. The lower limbs may be abnormal involving problems with a partial or a complete movement of the joint. Some of the infants may have decreased muscle mass of the lower limbs, the presence of webbed skin on their knee’s back and clubfeet. The additional features include the cleft palate, cleft lip and imperforate anus which is the blockage of the anal opening. The genitourinary tract abnormalities can include the malformed kidneys, missing kidney, fused kidneys and duplication of the tubes that deliver the urine from the kidneys to the bladder. The genital abnormalities include the presence of urethra opening on the underside of the penis in males and the females exhibit a condition where the rectum and vagina have an abnormal link.
Diagnosis
The diagnosis can be made with the prenatal fetal ultrasound which uses sound waves to present the image of the fetus. The physical examination can evaluate the clinical features that are associated with this condition at the birth of the infant. An echocardiography can determine the extent of abnormalities of the heart and an MRI imaging can evaluate the severity of various anomalies such as the spinal problems.
Treatment
There is no cure for this syndrome but various corrective treatments are available for the different symptoms that are exhibited by each individual. Some of the treatment options can include the surgery for skeletal abnormalities, cardiac problems, removal of the webbing and the correction of defects associated with the urinary tract. Crutches may be beneficial for those with mild skeletal abnormalities, medications for bladder control and physiotherapy to improve the muscle movement. In some cases, psychological therapy and social support may be beneficial for the affected individuals and their family.
References
https://ghr.nlm.nih.gov/condition/caudal-regression-syndrome#genes
https://rarediseases.org/rare-diseases/caudal-regression-syndrome/
