Caudal regression syndrome



What is Caudal regression syndrome?

Caudal regression syndrome or sacral agenesis is a rare congenital disorder which involves the impairment of the lower half (caudal) of the body. The deformed areas of the body mostly seen in this disease are lower back and extremities, gastrointestinal tract, genitourinary tract. Here the lower vertebra of the body, may be missing, with the hips having limited range of motion and underdeveloped bones of leg.

How common is Caudal regression syndrome?

Caudal regression syndrome is extremely uncommon. It affects males and females in equal numbers. The incidence of the disorder has been estimated to be 1 in 5 per 100,000 live births. The disorder occurs with greater frequency among women with diabetes. Please discuss with your doctor for further information.


What are the symptoms of Caudal regression syndrome?

Depending on the region of the body affected by this disease, here are some signs and symptoms of Caudal regression syndrome or sacral agenesis.

  • Abnormality in the shape of spine or a missing vertebra from lower spine region
  • The complete absence of the lowest vertebra which is known by sacrum
  • Absence of a part of the spinal cord is also a sign of caudal regression syndrome or sacral agenesis
  • An incomplete complete closure of the lower vertebra region
  • Intense breathing problems due to an abnormal shape of the chest
  • Small hips and bones of the lower leg region. This may also lead to limitation in motion
  • Club feet which go upwards
  • A reduced sensation in the lower leg and back is also a symptom of caudal regression syndrome or sacral agenesis
  • Complete loss of a bladder control
  • Abnormal or unusual path between the anus and vagina region
  • Absence of anal region
  • Twist of intestine
  • Complete absence of genitals
  • Constipation
  • Hernia problem

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Caudal regression syndrome?

Caudal regression syndrome (CRS) may have different causes in different people.

In many cases, the cause is unclear. It is thought to be a multifactorial disorder, which means that genetic and environmental factors likely interact to cause CRS.

Some researchers believe CRS may be caused by a disruption of mesoderm development in the fetus, which impairs normal formation of the skeleton, gastrointestinal system, and genitourinary system. Others have suggested it may result from the presence of an abnormal artery in the abdomen, which may divert blood flow from the lower body areas of the developing fetus. It is unclear whether abnormal mesoderm development causes reduced blood flow, or whether reduced blood flow causes abnormal mesoderm development. Many scientists think that the cause of CRS is a combination of abnormal mesoderm development and decreased blood flow to the caudal (lower) areas of the developing fetus.

Risk factors

What increases my risk for Caudal regression syndrome?

Diabetes in a pregnant woman (maternal diabetes) is a known risk factor for CRS. Increased blood sugar levels and other associated metabolic problems may harm fetal development, increasing the chance to develop CRS. The risk is further increased if the mother’s diabetes is poorly managed.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Caudal regression syndrome diagnosed?

A diagnosis of caudal regression syndrome can often be made before birth (prenatally) usually using a fetal ultrasound.

Clinical testing and work-up

An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with caudal regression syndrome. Additional tests may be required to detect or assess or physical findings potentially associated with the disorder. For example, an echocardiography is usually performed to evaluate the extent of the involvement of the heart. An echocardiography is an exam that uses sound waves to produce images of the heart.

Magnetic resonance imaging (MRI) may also be performed to assess the degree of certain anomalies such as spinal defects. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.

A diagnosis oCaudal regression syndrome may be made at birth by a thorough clinical evaluation and identification of characteristic findings.

How is Caudal regression syndrome treated?

Treatment of Caudal regression syndrome depends on the symptoms and their severity. The specialized treatment requires coordinated efforts of specialists like neurosurgeons, urologists, orthopedist surgeons, nephrologists etc. these specialists need to work comprehensively to plan a child’s treatment.

An early intervention and medical care is necessary to ensure effective treatment of caudal regression syndrome. This directs towards the stage when the fetus is growing and the mother is supplicated with required nutrition like vitamins, minerals and other essential nutrients.

Most of the newborns born with caudal regression syndrome do not survive in the long run. Amidst the others who go on to survive might need various surgeries to correct problems result from caudal regression syndrome such as blocked anus, web lower limbs, urinary tract, intestinal malformation etc. In case of skeletal impairment in children, braces and crutches, might be required. Other surgeries are required to correct the urological, spinal, limb, gastrointestinal abnormalities. Plus, anticholinergic drugs might be required for treating the urological abnormalities.

The surviving child might have normal intellect although the neurological deficiencies might continue.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Caudal regression syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: February 1, 2018 | Last Modified: February 22, 2018