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List of 7 Rare Diseases Affecting Children

Rare diseases are those that affect a small percentage of the population. While many people believe these kinds of conditions to be uncommon, many rare diseases actually affect thousands of people worldwide.

Some rare illnesses may even affect one child out of every fifty thousand children who live in developed countries, and some only one per every two hundred and fifty thousand. Some cases can be so extreme that there is only one child with that specific disease in an entire country!

Rare diseases can be devastating for both children and their families. Many of these diseases are life-threatening and can cause a wide range of problems that affect the patient’s quality of life. It is important to raise awareness for these conditions and support patient research to find better treatments and hopefully a cure one day.

Although they can’t all be named here, we’ve compiled a list of seven rare childhood disorders you’ve probably never heard about (in no particular order).

1. Angelman Syndrome

Angelman syndrome is a genetic disorder related to nervous system function. Those with Angelman syndrome typically suffer from developmental delays and movement disorders. This rare disease is the result of a genetic mutation that deletes 15 genes or more, which can cause seizures and sleep disturbance.

It’s also possible for those with this disorder to have facial deformities such as a flat nasal bridge, wide mouth, narrow eyes, lack of muscle tone, and an impaired immune system. Other signs may include microcephaly (small head circumference) and distinctive hand movements like hand-flapping or hand biting.

2. Aicardi Syndrome

Aicardi syndrome is a rare genetic brain disorder that only affects girls on average, but there is one documented case where it affects a boy as well.

It causes severe epileptic seizures, vision defects, and other problems that begin in infancy or childhood. It’s possible for this disorder to cause permanent disability, even when treated with appropriate care.

3. Andermann Syndrome

Andermann syndrome typically affects girls past puberty who live in the Americas; it is rare everywhere else. This disease makes patients unable to feel pain along their face and body because of the destruction of small nerves found within the brain called unmyelinated nerve fibers (A-delta fibers).

It also destroys these same cells in the patient’s inner ear, causing hearing loss. Other symptoms include poor balance, seizures, intellectual disabilities/developmental delays, ataxia (an inability to move properly), paralysis on one side of the patient’s body which is usually temporary and could come and go, and urinary retention.

4. Chronic Granulomatous Disease (CGD)

The chronic granulomatous disease is a rare inherited disorder that causes the immune system to be unable to properly protect the body from certain bacterial and fungal infections. Having CGD also causes people to have high levels of reactive oxygen species (ROS), which damages the body’s cells and tissues.

Patients with this condition typically suffer from recurring infections in their respiratory tract, lymph nodes, ears, and skin after birth, and it could lead to multiple organ damage.

5. Congenital Central Hypoventilation Syndrome (CCHS)

Congenital central hypoventilation syndrome is a life-threatening disorder that inhibits breathing and interferes with the autonomic nervous system. Patients who suffer from this condition typically have low levels of carbon dioxide, as well as low blood oxygen levels.

Patients also have slow heart rates and require mechanical ventilation to stay alive. This rare illness affects one in 100,000 people worldwide, but it’s more common for those born into families that have a strong history of the upper-airway disease.

6. Cri du Chat Syndrome

Cri du chat syndrome is a rare chromosomal disorder that affects roughly one in 50,000 newborns. It is called the five-cat-cry because patients with this condition typically have a low, raspy voice, and their cry sounds like a meowing cat’s mew.

This disease also affects the patient’s face and bodily functions over time. For instance, it can cause someone to develop distinctive facial features such as an upturned nose and wide-set eyes, a small lower jaw and mouth, and poor muscle tone. Cri du chat syndrome also causes problems with cognitive development.

7. Cystic Fibrosis (CF)

Cystic fibrosis is an inherited chronic disease that affects cells that produce mucus, sweat, and digestive fluid. It typically affects the respiratory and digestive systems, but it can affect other areas as well.

Each patient experiences a different set of symptoms that vary in severity, and most do not experience noticeable symptoms until they are at least two years old.

Rare diseases may be uncommon, but they still affect many children all around the world. The seven rare diseases listed in this article are just a few of the many types that exist. Each one can cause significant health problems for patients and often requires specialized care. If you know a child who is suffering from a rare disease, please reach out to support groups or other families who might be able to help.

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