CAUDAL REGRESSION SYNDROME

Article Updated on 25 August 2023

Caudal regression syndrome is a disorder that affects the development of the lower (caudal) half of the body. It is a rare congenital disorder where the genitourinary system, the gastrointestinal tract, the lower back, and limbs may all be affected. The remaining spinal cord function is inversely correlated with the severity of the morphologic derangement. Ghanim Al-Muftah, the ambassador of FIFA World Cup 2022 is a Qatari YouTuber and philanthropist who has Caudal regression syndrome. Ghanim is an inspiration to all affected by this condition. Instead of allowing it  to hinder his life, Ghanim has learnt to adapt to a more or less regular lifestyle, carrying on everyday activities including swimming and hiking and even participating in extreme sports. 

What Is Caudal Regression Syndrome?

Caudal Regression Syndrome, also known as sacral syndrome, or caudal dysplasia, is a rare congenital disorder affecting 1 to 2.5 per 100,000 newborns. It is also called sacral agenesis due to the sacrum's incomplete or non-existent development, a triangle-shaped bone that connects the backbone to the pelvis. Caudal regression syndrome manifests as a spectrum disorder, which means that the extent of its symptoms can vary significantly from person to person. While some may have mild symptoms, others may encounter more severe disabilities.

People with caudal regression syndrome may have twisted intestines, blockages in the anus, and other digestive system irregularities. Treatment is symptomatic and may involve surgeries.

The condition affects how the lower part of a baby's body grows and develops in the womb, including the following:

• Genitals
• Lower back
• Digestive tract
• Urinary tract
• Legs

The lower spine's vertebrae (the bones that make up the spine) are frequently distorted or absent in people with this disorder, and the corresponding spinal cord segments are also irregular or missing.

The vertebrae around the spinal cord may not completely close in the affected person. They may have tufts of hair at the base of their spine or a fluid-filled sac on their back that is covered by skin and may or may not contain part of the spinal cord.

The most severe type of caudal regression syndrome, according to some sources in the medical literature, is a condition referred to as sirenomelia. But recently, many researchers have claimed that sirenomelia is a different but related disorder.

Who Are At Risk For Developing Caudal Regression Syndrome?

Infants born to mothers with diabetes (which is thought to affect 1 in 350 newborns) are at risk for developing caudal regression syndrome. It is believed that caudal regression syndrome could manifest in a developing fetus due to elevated blood sugar levels and other metabolic issues linked to diabetes. If the mother's diabetes is not adequately controlled, the risks to the baby increase further.

It is possible that additional genetic and environmental factors are at play because this condition also affects newborns born to people without diabetes. The condition equally affects both males and females.

Causes of Caudal Regression Syndrome

Caudal regression syndrome is a complicated condition with multiple potential causes. In a newborn, this condition can be brought on by a variety of genetic and environmental factors, such as:

Genetic Mutation

Caudal regression syndrome is thought to be caused by a genetic mutation. This condition can be brought on by genetic changes in your body that occur during conception (when the egg and sperm meet), specifically, genetic mutations in the HLXB9 or the VANGL1 gene.

The condition can also occasionally affect newborns without a family history of the disorder. This is known as a sporadic occurrence. Research is still ongoing to find out more about the potential causes of this condition and how it affects newborns.

Diabetes

The baby's development while inside the mother's womb can be impacted by changes in the parent's blood glucose levels and metabolism. However, the development of this complex disorder also affects infants of non-diabetic mothers, prompting researchers to look for additional risk factors.

Abnormal Artery In The Abdomen

According to other researchers, the presence of an abnormal abdominal artery causes caudal regression syndrome. An artery is a tube that carries blood to various body parts. When a developing fetus has caudal regression syndrome, the artery that supplies blood to the lower part of the body faces in the opposite direction, preventing blood from getting to that area.

It is believed that reduced blood flow to these regions prevents them from developing normally and causes caudal regression syndrome.

Embryonic Abnormalities In The Mesoderm

According to some researchers, caudal regression syndrome is brought on by a disruption of fetal development around the 28^th day of pregnancy. The mesoderm, or the middle layer of embryonic tissue, is thought to be affected by developmental issues.  The mesoderm comprises a collection of cells in charge of constructing the bones and organs of the fetus's body.

The normal formation of certain parts of the skeleton, digestive system, and genitourinary system is therefore hampered by disruption of normal mesoderm development.

Symptoms Of Caudal Regression Syndrome

Depending upon the severity of the diagnosis, the symptoms of caudal regression syndrome range from mild to severe and are limited to the lower part of the child's body. The child's appearance may not change significantly in mild cases. However, in extreme cases, there might be observable differences in the area of the hip and leg.

The symptoms of caudal regression syndrome include:

Abnormalities In The Skeletal System

The syndrome can affect the development of the child's bones, such as:

• Bones of the vertebrae and the spinal cord either don't exist or are unusually shaped.
• Curving of the spine (scoliosis).
• Formation of a fluid-filled sac close to the vertebra that did not close around the spinal cord,
• Irregular chest shape, which makes breathing difficult.
• Tiny hip bones.
• Dimpled and flat buttocks.
• Very little sensation in the lower body.
• Legs may be permanently bent in a "frog-like" stance
• Feet are pointed upward at a sharp angle (calcaneovalgus).
• Clubfeet, in which a child's feet turn inwards.

Malformations In The Renal System

The development and function of a child's renal system can be affected by caudal regression syndrome symptoms, including:

• Missing or abnormally developed kidneys (renal genesis).
• Kidneys with unusual shapes or kidneys that are fused together (horseshoe kidney), resulting in kidney failure.
• The brain does not receive signals from the bladder nerves that generally cause the bladder to function as intended (neurogenic bladder).
• Urine travels through more tubes than necessary from the kidneys to the bladder (ureteral duplication).
• Urinary tract infections.
• A hole in the abdominal wall where the bladder exits (bladder exstrophy).
• Absence of bladder control.

Issues In The Reproductive Organs

Symptoms that affect the reproductive organs include:

• Undescended Testicles (cryptorchidism).
• Lack of genitalia (genital agenesis).
• Opening of the penis on the underside rather than the tip (hypospadias).
• Bowel contents leak out and pass through the vagina due to the connection between the lower portion of the large intestine (rectum) and the vagina (rectovaginal fistula).

Problems In Other Internal Organs

Various other symptoms affecting digestion and the heart, such as:

• Blocked anal opening (imperforate anus).
• A large intestine that is malformed or that protrudes abnormally from the gut.
• Constipation.
• Intestine that squeezes through the groin's openings (inguinal hernia).
• Absence of bowel control.
• Congenital heart problems.

How Is Caudal Regression Syndrome Diagnosed?

The first signs of caudal regression syndrome typically appear between the fourth and seventh weeks of pregnancy. However, most of the time, the condition can be identified by the end of the first trimester.

The doctor may use an ultrasound to look for signs of gestational diabetes if the mother has a history of diabetes or acquired it while pregnant. Otherwise, any fetal abnormalities will be checked for during routine ultrasound exams.

If the doctor suspects caudal regression syndrome, they might run an MRI after 22 weeks of pregnancy. This allows them to visualize the lower body more precisely.

After birth, an MRI may also be used to confirm the diagnosis. In addition, other tests like X-rays can be used to examine the effects of the condition on the newborn's bones.

Treatment of Caudal Regression Syndrome

Patients with caudal regression syndrome are frequently treated by an interdisciplinary team comprising the following specialists:

• Pediatricians
• Urologists and kidney specialists
• Neurologists and neurosurgeons
• Cardiologists
• Orthopedists and orthopedic surgeons

Each child with caudal regression syndrome will require treatment based on their symptoms. The child may need multiple operations to treat their symptoms as they grow. Depending on the child's symptoms, they may require treatment with medications or surgery as soon as possible after birth or in the first few months of life, including:

• Surgery to treat skeletal system symptoms or bone-related symptoms.
• Surgery to reconstruct the child's genitalia.
• Medication to minimize the symptoms.
• Ventilator to assist with breathing.
• In some circumstances, the child might require special footwear, crutches, or leg braces to aid walking and mobility.
• Physical therapy may also help them regain control of their movements and strengthen their lower body.
• Artificial or prosthetic legs due to their impaired development.
• A catheter is used to drain urine if the child cannot control their bladder.
• Surgery to create a hole in the intestine to enable excretion into a bag outside the body.
• Specific symptoms, such as bladder exstrophy and inguinal hernia, can also be treated surgically.

Can You Prevent Caudal Regression Syndrome?

Caudal regression syndrome cannot be prevented because some of its causes are due to unpredictable genetic changes. However, if you have diabetes while pregnant, you can take steps to lower your risk of giving birth to a child with caudal regression syndrome by managing your blood glucose levels with the help of your healthcare provider.

What Can I Anticipate If My Child Has Caudal Regression Syndrome?

Caudal regression syndrome is an incurable, lifelong condition. Your child needs a team of specialists to treat and manage the condition throughout their lives because the symptoms affect several different body parts.

Surgery may be required as early as infancy to correct any growth abnormalities that may have occurred during your baby's development. After birth, your child may remain in the hospital for a few weeks to ensure their health.

Your medical team will collaborate with you and your child's caregivers to help you learn more about your child's condition, how you can support your child's healthy development, and what symptoms you should keep an eye on at home.

What Is The Prognosis?

Your child might go on to lead an active and healthy life in minor cases. Over time, they might be able to support their body weight and assist in movement with the aid of special footwear, braces, or prosthetics.

Heart, gastrointestinal tract, or renal system issues could shorten your child's life expectancy in extreme circumstances.

When To Schedule An Appointment With The Doctor?

Visit the doctor with your child if:

• For their age, they are unable to meet growth or developmental milestones.
• Their surgical site swells, leaks fluid or pus, and isn't healing.
• When using the restroom, they feel pain or discomfort.
• They are eating, but they are not going to the bathroom.

If your child experiences any alarming symptoms, such as irregular heartbeat, difficulty breathing, or other symptoms, take them to the emergency room.

The Bottom Line

Caudal regression syndrome is a rare congenital disability that affects the caudal or lower portion of the spine. Some have minor defects and have no outward sign of the condition. In contrast, for others, substantial areas of the spine are absent, affecting the ability to walk and control the bowel and bladder.

Depending on the severity of the conditions and the parts affected, surgeries can help treat specific abnormalities. There is, however, no cure, and complications may affect the child's life expectancy. More details about what to anticipate following childbirth and future options can be discussed with your doctor.

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References:

• Sen, K K, and M Patel. “Caudal Regression Syndrome.” Medical journal, Armed Forces India vol. 63,2 (2007): 178-9. doi:10.1016/S0377-1237(07)80071-2
• “Caudal Regression Syndrome: MedlinePlus Genetics.” Caudal Regression Syndrome: MedlinePlus Genetics, 1 Aug. 2015, medlineplus.gov/genetics/condition/caudal-regression-syndrome.
• https://rarediseases.org/rare-diseases/caudal-regression-syndrome/ 

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