Caudal regression syndrome
The caudal regression syndrome is a process that affects the development of the lower half of the body. Affected areas may include the lower back and extremities, genitourinary tract and gastrointestinal tract.
Abnormalities of lower back and extremities can comprise the absence or deformity of the lower vertebrae and the corresponding sections of the spinal cord; incomplete closure of the vertebrae around the spinal cord; a sack filled with fluid in the back covered by skin that may or may not contain part of the spinal cord; tufts of hair at the base of the spine and scoliosis. Abnormalities of the spinal cord can affect the size and shape of the chest, leading to respiratory problems in some individuals. Additionally, individuals with caudal regression syndrome may have small bones hip with a limited range of motion; flat, dimpled buttocks; underdeveloped bones of the legs, most often the femurs; legs bent knees pointing sideways and feet positioned below the hips, sometimes called frog leg position; Clubfoot or Calcaneovalgus; and decreased sensation in the lower extremities.
Abnormalities in the genitourinary tract in people with caudal regression syndrome are varied. Often, the kidneys are malformed and individuals may have unilateral renal agenesis horseshoe kidney due to the fusion of the kidneys, or ureteral duplication. These renal abnormalities can lead to frequent urinary tract infections and progressive renal failure. In addition, affected individuals may have bladder exstrophy. Damage to the nerves that control bladder function, an alteration known as neurogenic bladder, causes affected individuals show a progressive difficulty controlling urine flow. Genital abnormalities in males may include hypospadias or cryptorchidism. Women may have a rectovaginal fistula. In severe cases, both men and women have genital agenesis.
Gastrointestinal abnormalities may include poor rotation of the large intestine, imperforate anus, inguinal hernia, or other malformations of the gastrointestinal tract. Often, affected individuals have constipation and loss of control of bladder and bowel function.
Caudal regression syndrome is a complex entity that may have different causes in different people, although it is likely to develop by the interaction of multiple genetic and environmental factors. A risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is believed that increased concentrations of blood sugar and other metabolic disorders related to diabetes can have a detrimental effect on fetal development, which increases the likelihood of developing the caudal regression syndrome. Caudal regression syndrome also occurs in newborns of diabetic mothers not, so they are trying to identify other factors that contribute to the development of this complex syndrome. It is believed that an interruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The problem is likely to affect the development of the embryonic mesoderm tissue. The disruption of normal development of mesoderm formation deteriorates normal skeletal parts, the gastrointestinal system and the genitourinary system. Other studies suggest that the caudal regression syndrome develops from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower regions of the developing fetus. It is believed that the decreased blood flow to these areas interferes with their development, leading to the signs and symptoms of caudal regression syndrome. Some studies suggest that abnormal development of mesoderm causes reduced blood flow, while others suggest that the reduced blood flow leads to abnormal development of mesoderm. Many scientists believe that the cause of caudal regression syndrome is a combination of abnormal development of mesoderm and decreased blood flow to areas of flow of the fetus.
Caudal regression syndrome occurs sporadically, meaning that occurs in people with no history of disease in your family. Multiple genetic and environmental factors likely play a role in determining the risk of developing this condition.