Sacral agenesis or Caudal Regression Syndrome

Sacral agenesis or Caudal Regression Syndrome

Caudal regression syndrome is a rare congenital disorder. It occurs when the lower spine doesn’t fully form before birth. The lower spine is a part of the “caudal” half. This area contains the parts of the spine and bones that form the hips, legs, tailbone, and several important organs in the lower body. This condition is sometimes called sacral agenesis because the sacrum, a triangle-shaped bone that connects the backbone to the pelvis, only partially develops or doesn’t develop at all.

Causes

The exact cause of caudal regression syndrome isn’t always clear. It has been suggest  that having diabetes during pregnancy, especially if it isn’t managed, can increase the chance of your child’s caudal region not fully developing. As this condition also occurs in infants born to those without diabetes, there may be other genetic and environmental factors involved.

Diagnosis

In most cases, the condition can be diagnosed by the end of the first trimester.

If you have diabetes or if you’ve developed gestational diabetes during pregnancy your doctor may perform an ultrasound specifically to look for signs of this condition. Otherwise, routine ultrasound tests will look for any fetal abnormalities.

If your doctor suspects caudal regression syndrome, they may perform an MRI after 22 weeks of pregnancy. This will allow them to see even more detailed images of the lower body. An MRI may also be used after birth to confirm the diagnosis.

Symptoms

• Spine curving (scoliosis)
• Flat buttocks that are noticeably dimpled
• Feet bent upward at a sharp angle (calcaneovalgus)
• Clubfoot
• Imperforate anus
• Opening of the penis on the underside instead of the tip (hypospadias)
• Testicles not descending
• Not having any genitals (genital agenesis)

Complications:

• Abnormally developed or missing kidneys (renal agenesis)
• Kidneys that have grown together (horseshoe kidney)
• Nerve damage to the bladder (neurogenic bladder)
• Bladder that sits outside of the abdomen (bladder exstrophy)
• Misshapen large intestine or large intestine that sits abnormally in the gut
• Intestine that pushes through weak areas of the groin (inguinal hernia)
• Vagina and rectum that are connected

These characteristics can lead to symptoms such as:

• Lack of feeling in your legs
• Constipation
• Urinary incontinence
• Bowel incontinence

Treatment

Treatment depends on how severe your child’s symptoms are.

In few cases, your child may need special shoes, leg braces, or crutches to help them walk and move around. Physical therapy may also help your child build strength in their lower body and gain control of their movements. If your child’s legs didn’t develop, they may be able to walk using artificial, or prosthetic, legs.

If your child has trouble controlling their bladder, they may need a catheter to drain urine. If your child has an imperforate anus, they may need surgery to open a hole in their intestine and pass stools outside of their body into a bag. Surgery can also be done to treat certain symptoms, such as bladder exstrophy and inguinal hernia. Surgery performed to treat these symptoms usually resolves them completely.

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 Frequently asked questions

Q. Can you live with missing vertebrae?

Your spine is made up of your vertebrae as well as your spinal cord and associated nerves. It's vital to your overall health and functioning, and you can't live without it.

Q. Can I remove my tailbone?

Coccygectomy is the surgical removal of the tailbone (coccyx). It is done in the cases of pain in the tailbone region (coccydynia) when conservative treatment options, such as rest, painkillers, physiotherapy, and steroid injections, have failed.

Q. What happens if you have missing vertebrae?

Missing or extra vertebrae – often associated with an extra pair of ribs if located in the thoracic region of the spine – do not generally cause deformity or other problems.

Q. Can people with Caudal Regression Syndrome walk?

Cases with thoracic and upper lumbar involvement cannot walk and have to use the wheelchairs. Ambulation in the home may be possible for cases with middle lumbar level but the community ambulation is not possible. Functional ambulation may be possible for cases with lower lumbar level.