The caudal regression syndrome characterizes a malformation syndrome in the lower (caudal) sections of the spine with a sometimes very serious but variable appearance. Sections of the caudal spine such as the coccyx and areas of the lumbar spine are often missing. The condition is multifactorial and usually develops within the first four weeks of pregnancy.
What is caudal regression syndrome?
The caudal regression syndrome is characterized by complex symptoms. Partial agenesis may occur in the lower portions of the spine.
Caudal Regression Syndrome is a very rare condition that affects the lower sections of the spine. Sometimes very significant malformations occur in different sections of the spine and other areas of the body. In some cases, entire sections of the spine are missing in the area of the sacrum and the coccyx. See AbbreviationFinder for abbreviations related to Caudal Regression Syndrome.
Literally translated, the Latin term “caudal regression syndrome” means something like “regression in the lower areas”. Although the disease is congenital, it is probably not usually genetic. Multifactorial triggers of this syndrome are assumed. However, genetic involvement cannot be completely ruled out in some cases. The term sacral agenesis is also used synonymously.
This term derives from the Latin expression “sacrum” for “sacrum” and “agenesis” for the word “absence”. So the disease can also be referred to as a missing sacrum. Sometimes a piece of the lumbar spine is also missing in the cranial direction. Caudal regression syndrome may also be a collective term for severe developmental disorders and malformations affecting the lower spine.
The disease is given with a prevalence of 1 in 25,000 to 1 in 60,000 of all newborns. Other publications also discuss prevalences of 1 in 50,000 to 1 in 100,000 newborns. Familial accumulations do not occur. Therefore, multifactorial causes are assumed.
The causes of caudal regression syndrome are not known. A multifactorial process is suspected. It was found that the disease often occurs in the children of diabetics. The time of damage should be between the third and seventh week of pregnancy. This is said to be a developmental disorder of the mesoderm.
The influence of reduced blood flow in inner vessels as the cause of this disease is also discussed. However, there may also be a genetic predisposition to this disease. Studies have shown that there may be a connection between various mutations in the VANGL1 gene and the occurrence of this disease. However, the disease usually occurs sporadically and shows a strong association with maternal diabetes.
Symptoms, Ailments & Signs
The caudal regression syndrome is characterized by complex symptoms. The disease is very variable. Partial agenesis may occur in the lower portions of the spine. Agenesis refers to the absence of certain sections or organs. In some cases, the coccyx is missing completely or is very much atrophied. In more severe cases, the sacrum may also be missing.
In some cases there are also severe pelvic deformations. Typically, the two iliac wings may be fused, with anal atresia (anal malformation) present. The anal exit is often not available and must be created with an artificial anus. In addition, there is often a deformity of the lower limbs. Flexion of the knees often occurs.
Furthermore, the clinical picture is characterized by neurological and motor deficits of varying severity. The tendon reflexes of the lower limbs are reduced and motor activities occur spontaneously. The urogenital system, the digestive system and the respiratory tract can also be involved. There are often anomalies here. Bilateral renal agenesis, displaced kidneys or fused ureters can be present in the urogenital system.
In renal agenesis, the kidneys are absent. This is incompatible with life. The other deformities can lead to blockage of the urinary tract and eventual reflux of urine from the urinary tract into the bladder. The gastrointestinal malformations result in the patient’s inability to control bowel movements. The result is incontinence.
However, as already mentioned, the anus can also be completely closed. In addition, heart defects are common. It is assumed that the malformations develop before the fourth week of pregnancy.
Diagnosis & course of disease
The caudal regression syndrome is diagnosed during pregnancy by means of ultrasound examinations. As a rule, the most severe deformations are already detected in the first trimester of pregnancy. After birth, the extent of the deformities is determined by MRI examinations.
Sirenomelia and Currarino syndrome must be excluded in the differential diagnosis. In sirenomelia, the lower extremities are fused, and in currarino syndrome, there are additional anterior sacral masses. In addition, Currarino syndrome is inherited following an autosomal dominant inheritance.
This syndrome usually leads to serious malformations and complications. It is not uncommon for those affected to be missing various organs, which can lead to death or a very limited life. In most cases, an artificial bowel outlet is also necessary so that the patient can continue to survive.
It is also not uncommon for the various limbs to be deformed, which can lead to various limitations in the everyday life of the affected person. The kidneys can also be affected by this syndrome, so that the person concerned suffers from incontinence or even needs a transplant. Furthermore, many of those affected suffer from heart defects, which can lead to a severe reduction in life expectancy.
It is not uncommon for parents or relatives to experience severe psychological problems, so that they are usually dependent on psychological treatment. Only the symptoms can be limited in the treatment of this syndrome.
The treatments are carried out by different doctors, although there are usually no special complications. However, not all complaints can be restricted. The mental development of the child is mostly unaffected by the syndrome.
When should you go to the doctor?
An expectant mother is strongly advised to take part in all preventive and check-up examinations during pregnancy. Within the routine examinations that take place to clarify the state of health of the child, imaging methods are used that reveal typical symptoms of the caudal regression syndrome. The severe malformations and abnormalities of the lower back are already noticeable in the womb within the first few weeks of pregnancy.
The deformities of the coccyx or the lumbar spine lead to further examinations over the coming weeks, so that a diagnosis can already be made in this prenatal phase. The exact extent of the physical changes is determined after birth in various studies. Since the first abnormalities are usually already documented in the womb, a planned inpatient birth is recommended.
Immediately after the birth, obstetricians and trained doctors carry out the necessary examinations and take care of the newborn’s first aid. In the event of a sudden birth, an emergency service must be alerted so that mother and child receive adequate medical care as quickly as possible. If, in addition to the malformations, there are also disorders of the digestive tract, a doctor must be consulted. If the child develops mental, emotional or psychological problems as the child develops, it is advisable to seek the support of a doctor or therapist.
Treatment & Therapy
Treatment depends on the existing abnormalities. Since the symptoms are complex, interdisciplinary cooperation between different departments is required for therapy. These include urologists, nephrologists, neurosurgeons, psychologists and occupational therapists. The urological disorders must be corrected with surgical intervention or with the administration of anticholinergic drugs.
In the case of an imperforate anus, it is necessary to place an artificial anus. Orthopedic procedures may also need to be performed depending on the severity of the symptoms. Overall, treatment can only be symptomatic. There are already irreversible changes that cannot be reversed.
The prognosis of caudal regression syndrome is often unfavorable. In severe cases, the children die shortly after birth. However, surviving children show normal intellectual functioning.
Outlook & Forecast
The prognosis of caudal regression syndrome depends on the severity of the disease. However, due to the cause, a cure is not possible. During the first weeks of pregnancy, changes in the skeletal system occur as the child develops. These cannot be completely resolved after birth.
Although the spinal deformities associated with this syndrome are varied, there are a number of ways in which the situation can be improved. A significant improvement in health can be achieved through surgical interventions, physiotherapeutic measures and the support of psychologists. Nevertheless, an operation is always associated with risks. The sooner a therapy is used, the better the results are in most cases.
Due to the physical impairments and the burden of the disease, a reduced well-being can be observed in a large number of patients. The disorder is a challenge for those affected and their families. This increases the vulnerability to subsequent psychological disorders. If the help and support of a psychologist is refused, a worsening of the overall situation can be expected. In most cases, the mother of the child also needs to undergo therapy. It could be observed that there is an improvement for everyone involved when mother and child receive medical care.
Prevention of caudal regression syndrome is not possible. The causes are unknown and cases tend to be sporadic.
As a rule, direct follow-up measures for this syndrome are very limited. In many cases, they are not even available to the person concerned, since it is a hereditary disease that cannot be completely cured. For this reason, if you wish to have children, you should always undergo a genetic examination and counseling so that the syndrome does not recur in the offspring.
The earlier a diagnosis is made, the better the further course of the disease. The treatment of this hereditary disease is carried out by the intervention of various specialists, whereby those affected are dependent on the help and support of their own families in their everyday life. Above all, intensive discussions with the person concerned are necessary so that there is no psychological upset or depression in the patient.
Due to the illness, children need special support so that they can go through normal development later in school. In some cases, this syndrome reduces the life expectancy of those affected, with the further course depending very much on the time of diagnosis of the disease.
You can do that yourself
In the case of a caudal regression syndrome, the possibilities for self-help for the newborn patient are very limited. A team of different doctors takes on the therapy and care of the patient, who suffers from a variety of malformations. The anomalies are sometimes visible externally and also mostly affect internal organs, with the clinical picture of the syndrome being different for each patient.
Medical treatment is essential for the patient’s survival. Therefore, the legal guardians adhere to all care instructions and keep all appointments on time. Some of the patients die from the severe deformities. In general, the life expectancy of those affected depends on the respective anomalies and the success of the treatment. If patients reach adolescence or adulthood, special schools and care facilities are available for the education and social integration of the patients. This makes it possible for patients to achieve a better quality of life.
However, regular check-ups and treatment appointments with various specialists are necessary throughout life. Typically, patients undergo multiple surgeries and may wear prostheses or a colostomy. Psychotherapeutic care of the patient’s parents is recommended to better deal with the disease.