I live with an imperfect body, but that has never stopped me from feeling happy in my life." These were the words of the Qatari child Ghanem Al-Muftah, who inspired the whole world with his positivity. Ghanem suffers from caudal regression syndrome, and despite this, his health condition did not prevent him from excelling in various sports. Rather, he has a spirit of adventure and positivity that we rarely find in healthy people. This champion was born with caudal regression syndrome. What is this syndrome and what are its causes? Follow us, dear reader, in this article on Dalili Medical to learn more about this syndrome.

What is caudal regression syndrome?

 

Caudal regression syndrome is a condition that affects the development of the fetus inside the womb. This condition targets the child's bones, renal system, and digestive system. Children diagnosed with this syndrome may face difficulties in walking, urinating, and defecating. Treatment usually involves symptomatic procedures, and often requires surgery. Caudal regression syndrome can affect the shape of the infant's chest, hips, legs, and spine, in addition to the lower back and genitals.

Who may be affected Who has this syndrome?

 

Caudal regression syndrome can affect anyone. Some causes may be genetic, and genetic mutations often occur randomly, meaning the syndrome can appear even in the absence of a family history of the condition.

**How ​​common is caudal regression syndrome?**

 

Caudal regression syndrome affects about 1 to 2 in 100,000 newborns worldwide. It is most common in children born to parents with diabetes, affecting about 1 in 350 newborns.

**How ​​long does a person with caudal regression syndrome live?**

 

There is no scientific evidence to suggest that a person with caudal regression syndrome has a specific life expectancy. Many cases of this condition have lived normal lives, some even reaching the age of 70. This condition does not affect the brain or heart, but rather affects the lower part of the body only. Early deaths among people with this condition are rare worldwide. Despite efforts to find a treatment that alleviates the symptoms associated with it, all attempts have failed, as this disease is considered a congenital defect that medicine cannot intervene in or find solutions for.

How do genetic disorders occur?

 

Dominant genetic disorders appear when there is only one copy of the abnormal gene, which leads to the appearance of the disease. This abnormal gene can be transmitted from either parent to the fetus, or it may be the result of a new mutation that occurs in the affected individual. The risk of transmitting the abnormal gene from one parent to the offspring is 50% in each pregnancy, and this percentage is equal for males and females.

How common is caudal regression syndrome?

 

Estimates indicate that caudal regression syndrome occurs at a rate ranging from 1 to 2.5 per 100,000 newborns. This condition is particularly increased among infants born to mothers with diabetes. It is important to note that this syndrome affects females and males in equal proportions.

**Causes of Caudal Regression Syndrome:**

There are several genetic and environmental factors that may lead to Caudal Regression Syndrome in newborns, the most prominent of which are:

. **Maternal Diabetes:** It is believed that high blood sugar levels and metabolic disorders associated with diabetes can negatively affect fetal growth, especially if diabetes is not well managed. This increases the likelihood of developing Caudal Regression Syndrome. However, this syndrome can also appear in cases where the mother does not suffer from diabetes, making the relationship between them a subject of research and study.

. **Mesoderm:** The mesoderm is the middle layer of tissue in the developing fetus, and consists of a group of cells responsible for forming structural parts such as bones and organs. Genetic changes may affect the development of the mesoderm around the twenty-eighth day of pregnancy.

**Celiac artery malformation**: The celiac artery is a vital tube responsible for transporting blood to various parts of the body. In the case of a developing fetus, the direction of the artery that supplies blood to the lower part may deviate towards another area, preventing blood from reaching that area.

**Genetic mutation**: Genetic changes that occur during pregnancy, when the egg meets the sperm, can cause this condition, especially mutations in the HLXB9 or VANGL1 genes. Some cases of caudal regression syndrome occur sporadically or randomly, where the cause is not clear. Research is ongoing to understand more about the possible causes of this syndrome and how it affects newborns.

**Types of caudal regression syndrome**

After a diagnosis is made, the doctor relies on tests such as ultrasound or MRI to assess the severity of the condition. Caudal regression syndrome is divided into five types:

. **Unilateral**: This involves deformity or lack of development on only one side of the sacrum.

. **Bilateral**: This involves deformity or lack of development on both sides of the sacrum.

. **Undeveloped sacrum**: This involves the sacrum not developing at all, and some of the lower vertebrae above the sacrum fuse in the lower back.

. **Fusion of leg tissue**: This involves the leg tissue fused together completely.

. **Missing a set of leg tissue**: Where one set of leg tissue is missing.

Types I and II are the most common, and some of the bones surrounding the sacrum are often missing. Types III and IV are more severe, and some cases may have abnormalities in the brain and other physical functions. In rare cases, a child is diagnosed with caudal regression syndrome type V, which means the child has only one set of leg bones and one set of thigh bones, which are the bones thatBasic in the leg. Type V is sometimes known as "Sirenomelia".

**Symptoms of Caudal Regression Syndrome**

Signs and symptoms vary depending on the severity of the condition, but the most prominent ones are:

. **Spine and limb deformities**Spine and lower limb deformities include:

- Children with caudal regression syndrome have deformities in the bones of the lower spine and corresponding parts of the spinal cord.

- The vertebrae surrounding the spinal cord may be incompletely closed.

- A fluid-filled sac may appear in the lower back, which may or may not contain part of the spinal cord.

- The child may have scoliosis and other spinal deformities that affect the chest area, leading to breathing problems.

- The hip bones are small and the buttocks are flat.

- The leg bones appear abnormally, accompanied by decreased sensation in the lower extremities.

**. Genitourinary abnormalities**The child may have kidney problems, such as horseshoe kidney, also known as horseshoe kidney, which can lead to urinary tract infections and progressive kidney failure.

The affected person may have abnormalities in the bladder or in the nerves responsible for controlling its function.

In males, the opening of the urethra may be located on the underside of the penis, and the testicles may be undescended. In females, there may be an abnormal connection between the rectum and the vagina, and in some severe cases, the genitals may not fully develop.

**. Digestive abnormalities**

Anal obstruction and inguinal hernia.

Constipation and loss of bowel control are the main symptoms associated with these abnormalities.

**Skeletal symptoms**:Symptoms of caudal regression syndrome can affect the child's bone growth, and include the following:

- Abnormalities or loss of bones in the spinal cord and lower spine (vertebrae).

- Formation of a fluid-filled sac near the spinal cord as a result of the vertebrae not closing completely around it.

- Curvature of the spine (scoliosis).

- Deficiency in the size of the hip bones.

- Deformity in the shape of the chest, which leads to breathing problems.

- Flattening and deterioration of the shape of the buttocks.

Infants may suffer from delayed growth of the leg bones as a result of caudal regression syndrome, resulting in an incorrect posture that may affect the way they walk. These postures may include:

- **Frog leg position**: where the child's legs are bent with the knees pointing outward, and the feet are in line with the hips.

- **Club feet**: where the child's feet point inward.

- **Heel**: where the child's feet point outward and upward.

**Organic symptoms**: Symptoms of caudal regression syndrome can affect the development and function of the renal, digestive and urinary systems. Symptoms may include:

- Abnormalities in the shape of the kidneys, such as missing a kidney or fusion of the kidneys, which can lead to kidney failure.

- The presence of several tubes that carry urine from the kidneys to the bladder (duplication of the ureter).

- Recurrent urinary tract infections.

- The bladder protrudes through an opening in the abdominal wall (bladder exstrophy).

- The nerves that control the bladder do not send signals to the brain to function properly (neurogenic bladder).

- Lack of bladder or bowel control.

- Constipation.

- Obstruction of the anus (imperforate anus).

Caudal regression syndrome can affect the development and function of the genitals in children. Symptoms that may appear in the genitals of affected children include:

- The urethral opening is at the bottom of the penis (hypospadias).

- The testicles have not descended (cryptorchidism).

- A connection between the lower part of the large intestine (rectum) and the vagina in girls, which causes intestinal contents to leak into the vagina (rectovaginal fistula).

- The genitals do not form or develop.

Symptoms of caudal regression syndrome can also affect other internal organs in the child's body, such as:

- Twisting of the large intestine.

- Bulging in the groin or lower abdomen (inguinal hernia).

- Congenital heart disease.

How can urination and defecation be treated in people with caudal regression syndrome?

 

Caudal regression syndrome affects the child's ability to urinate and defecate, which may require assistance in using the bathroom. If the child is diagnosed with this syndrome, the doctor will provide various treatment options to support him, such as:

- Using a catheter to drain urine from the body.

- Performing surgery to repair any blockage in the urinary tract or intestines.

- Creating a surgical opening (colostomy) in the child's abdominal wall, allowing stool to bypass the colon and exit into an external bag.

The child's intestines may have difficulty functioning normally throughout his life, which may make mobility difficult. The medical care team will develop a treatment plan to help parents and the child adapt to this condition and improve their quality of life.

**Treatment of caudal regression syndrome**

Treatment depends on the severity of the symptoms and the type of condition.

In some cases, the child may need special shoes, leg braces, or crutches to help him walk and move around.

Physiotherapy can help strengthen the muscles that support the lower body, which helps the child control his movements.

If the child's legs do not improve, he may be able to walk using prosthetic limbs.

If the child has difficulty controlling his bladder, he may need a catheter to drain urine.

If the child has an imperforate anus, surgery may be required to open a hole in the intestine to pass stool into a bag outside the body.

Surgery can also be performed to treat some symptoms such as bladder exstrophy and inguinal hernia, and this surgery often leads to a complete solution to the problem. When a child suffers from clubfoot, treatments begin within a week or two after birth as a maximumMaximum, and treatment options include two stages:

**Phase 1: Extension and splinting of the affected part (Ponseti method)**

The Ponseti method is the most common and effective for treating this condition, as it relies on the use of a set of splints and braces to correct the position of the foot.

During the treatment stage, the doctor slowly repositions the child's foot using a series of splints, and this stage lasts from two to three months, where the foot is stretched and repositioned.

The doctor extends the child's foot and corrects its position, then fixes the foot, ankle, and leg in a splint to maintain the new position.

After about a week, the doctor removes the splint, then repositions and stretches the foot, and puts it back in a new splint.

This process is repeated weekly until the child's foot position is adjusted from the incorrect inward-facing position to the correct outward-facing position.

Usually, it takes five to eight readjustments and adjustments to move the foot to the correct position.

**Stage 2: Surgery**

After correcting the foot position as much as possible, most children need a simple surgery known as tenotomy, which aims to lengthen the Achilles tendon.

**The final stage** This stage requires supporting the foot by wearing appropriate shoes, and continues until the child is four years old. This stage is very important because it helps maintain the correct position of the foot and increases its strength. In severe cases that do not respond to previous treatments, the doctor may perform a more complex surgery that includes lengthening the tendons and ligaments to help the foot assume the correct position.

**Can caudal regression syndrome be prevented?**

 

Caudal regression syndrome cannot be prevented, as some of the causes are due to random genetic changes that cannot be predicted or prevented. However, people can take steps to reduce the risk of having a child with the syndrome, by working with a specialist doctor or pharmacist to manage blood sugar levels if the person had diabetes during pregnancy.

When should you see a pediatrician?

 

A pediatrician should be consulted if:

- The surgical site does not heal, or there is swelling, fluid leakage, or signs of pus.

- The child is unable to achieve age-appropriate growth or development levels.

- The child does not have bowel movements despite eating.

- The child experiences pain or discomfort while going to the bathroom.

You should also go to the hospital if your child has breathing problems, an irregular heartbeat, or any other worrying symptoms.

What questions should you ask your doctor?

 

How can a child with caudal regression syndrome use the bathroom?

What symptoms should you watch for?

Does your child need to follow a specific diet?

What should we do if my child is unable to go to the bathroom?