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Down syndrome -

Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21. Most children are born with 46 chromosomes, while children with Down syndrome have 47.

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How common is it? -

Worldwide, around 5.4 million people are affected with Down syndrome, according to a 2015 census. About one in every 1,000 children is born with Down syndrome.

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What can be done? -

While the experiences of people with Down syndrome can vary drastically, most individuals are able to live fulfilling lives with the help of speech and motor skill therapies and sometimes assistance with other cognitive tasks.

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Fragile X syndrome -

Fragile X syndrome is a chromosome mutation that can be passed down by either parents to their child. It can lead to developmental problems in children, including learning disabilities and cognitive disfunction.

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How common is it? -

Fragile X syndrome tends to be twice as common in boys than in girls. Globally, estimates say one in every 4,000 boys will be born with fragile X syndrome, while only one in every 8,000 girls is born with the condition.

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What can be done? -

As with most developmental disorders, properly tailored education and therapy are key to individuals with fragile X syndrome leading a happy and fulfilling life.

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Cystic fibrosis -

Cystic fibrosis is a genetic, hereditary condition that mainly affects an individual's lungs and digestive track. The ailment causes mucus to build up in these areas, leading to trouble with breathing and digestion.

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How common is it? -

Around 100,000 people are affected by cystic fibrosis worldwide, with 40,000 of those cases being reported in the United States alone. Nearly 1,000 new cases of the condition are reported annually.

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What can be done? -

Cystic fibrosis is usually recognized at birth, as it will appear on the preliminary heel stick blood test. While there is no cure for the condition, regular checkups with a physician and a regiment of medication and air passage-clearing techniques can allow those afflicted to live a relatively normal life.

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Hemophilia -

Hemophilia is a hereditary blood disorder that prevents an individual's blood from clotting properly, leading to spontaneous and excessive bleeding, frequent headaches, and easy bruising.

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How common is it? -

Some 400,000 people globally live with hemophilia, with 20,000 of reported cases coming from the United States. As a hereditary disease, those who have a family history with hemophilia are at an exponentially higher risk than those who do not.

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What can be done? -

While there is no cure for hemophilia, there are very effective treatments available. The most common treatment is scheduled injections of clotting factor concentrates, which help the blood clot easier, thus reducing the risk of excessive bleeding.

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Huntington's disease -

Huntington's disease is a hereditary condition that inhibits the function of the brain's cerebral cortex over time, causing a wide array of issues, from memory loss to mood swings, loss of motor function, and speech problems.

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How common is it? -

Huntington's is a relatively rare disease, and affects about 30,000 in the United States. However, symptoms usually only set in after the age of 30, and it is estimated another 200,000 young people in the United States are at risk of developing the ailment.

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What can be done? -

Although scientists are tirelessly at work researching Huntington's and searching for a cure, so far there has been no luck. The cerebral degeneration caused by Huntington's can go on for anywhere from 10 to up to 30 years, but will eventually result in death.

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Duchenne muscular dystrophy -

Duchenne muscular dystrophy, or DMD, is a hereditary chromosomal disorder that mostly affects young boys. It can cause severe muscular dystrophy and degradation, but only occasionally is accompanied by learning disabilities.

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How common is it? -

Symptoms don't usually make themselves visible until the age of three, but it is estimated that around one in every 3,500 to 5,000 newborn boys are born with the genetic mutation.

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What can be done? -

No cure for DMD has yet been developed, nor has a long-term treatment, unfortunately. However, the use of steroids can help slow muscle degradation for up to two years.

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Sickle cell anemia -

Sickle cell anemia is only one of many conditions related to sickle cells, which are misshapen red blood cells that are much more fragile than healthy blood cells, causing them to die quicker, deliver oxygen less efficiently, and clot much more frequently.

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How common is it? -

Sickle cell anemia is the number one most common inherited blood condition in the United States, and affects 5% of the global population.

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What can be done? -

As of yet, there is no safe cure for sickle cell diseases, but regular blood transfusions and a regiment of medications can help ease the symptoms of the condition, allowing those affected to lead largely happy and fulfilling lives.

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Thalassemia -

Thalassemia is another blood condition that can be inherited from one's parents. Those born with thalassemia produce less hemoglobin than the normal body. Hemoglobin is an important protein in red blood cells that is responsible for transporting oxygen throughout the body.

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How common is it? -

Thalassemia is far less common than sickle cell anemia, and only affects about 1.5% of the population; about 90 million people worldwide.

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What can be done? -

As is the case with sickle cell anemia, the only cure for thalassemia is a stem cell transplant. However, these procedures are extremely risky, and aren't considered a safe or viable option. However, regular blood transfusions can help relieve the symptoms.

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Tay-Sachs disease -

Tay-Sachs disease is a genetic disease that can only be contracted if both of an individual's parents pass on the mutated genes. Children afflicted are born without a special enzyme that helps break down gangliosides, fatty molecules that can accumulate around the spinal cord and brain stem, eventually leading to death.

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How common is it? -

Tay-Sachs disease is disproportionately common in people of Jewish Ashkenazi descent, with one in every 30 people carrying the gene. Outside of that ethnic group, that number rises to one in every 300. Around one in every 1,300 children are born with Tay-Sachs disease.

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What can be done? -

Sadly, there is no cure for Tay-Sachs disease, and the condition usually leads to death within a few years. However, anticonvulsant medications can help minimize the seizures and pain that progress as the nervous system suffocates.

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Angelman syndrome -

Angelman syndrome is a genetic mutation that develops when a child receives two copies of chromosome 15 from their father, as opposed to one from their father and one from their mother. Those born with Angelman syndrome will struggle with severe developmental and cognitive disabilities.

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How common is it? -

Angelman syndrome is relatively rare. Only one in every 20,000 people are born with the condition.

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What can be done? -

Thankfully, Angelman syndrome isn't physically dangerous and has little to no effect on a person's life expectancy. However, most individuals with Angelman syndrome will require living assistance for their entire lives.

Sources: (Mayo Clinic) (Labroots) (MedlinePlus)

See also: Diseases and infections that can kill you within 24 hours

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