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List Of Genetic Disorders - Both Common And Rare

Updated on October 15, 2013

A genetic disorder is characterized by a change or mutation in DNA. Many people adults and children affected by this change frequently visit hospitals, make certain changes in their life, and usually don’t live a life that normal children would. There are so many genetic disorders out there today. There are some that can be cured and others that cannot.

Common genetic disorders list

Here is a list of the most common genetic disorders below:

Brittle bone disease

An individual who has this disease can break their bones easily, even from crawling on the floor. Children who have this disease often break anywhere from 10 to 30 bones a year. As for adults, they are more careful when it comes to their health. Anyone who is experiencing this disease should try to take it easy and also not engage in any sports. The gene is usually passed on from the mom or dad.

Sickle cell anemia

Those with Sickle cell anemia can wake up feeling horrible one day and then the next day they’ll be fine. It seems like the symptoms come and go. The reason why the disease is called this is because their blood cells are different from normal people. The red blood cells are sick shaped which means they can block the flow of blood. The only way to help this is with a blood transfusion.

Down Syndrome

Chromosomal abnormalities that are the most common are down syndrome. Actually, 1 out of 1000 newborns have this, especially if the mother is older. Basically, the child has an extra gene copy on chromosome #21. The face has less muscle tone and also the child is at risk for delayed .development


Someone who has Achondroplasia is usually referred to as a “dwarf” because their arms and legs are not long enough. However, the torso of the body is the same size as a normal human. There are a lot of people who have Achondroplasia and we bet you’ve seen a few walking around before.

Rare genetic disorders list

Here is a list of rare genetic disorders below:

Cystic fibrosis

This disease is one that affects the secretory glands . It can also affect the lungs, sinuses, liver, and even the pancreas. In extreme cases, the mucus is very thick and therefore, it’s a lot more easier for bacteria to grow. Someone who has this will often get lung infections and will need to be prescribed medication.

Huntington's disease

Second on our rare genetic disorders list is Huntington’s disease. This disease is capable of affecting the body function and also takes a toll on nerve cells within the brain. Some will have difficulty in moving, jerk their arms, difficulty with small tasks, inability to conversate, dystoria, and also an impaired posture.

Hemophilia A

Hemophilia A will cause blood clotting and bleeding. It is one of the most common types of hemophilias in it’s category. The only time bleeding usually occurs is after an accident or some sort of fall. Anytime an individual injures themselves is when they start bleeding.

Rett's syndrome

Imagine going back in time where instead of developing, you go backwards. This is exactly what Rett’s syndrome is. A child who has this genetic condition will lose the use of her hands. Roughly 10,000 to 15,000 girls have Rett’s syndrome. After one year to four years of life, a girl will often withdraw socially and even stop talking.

Myotonic dystrophy type 1

Also known as Steinert disease, this is categorized as a muscle disease which stems from multiorgan damage. Individuals struggling with this disease will experience muscle weakness, arrhythmia, and also sleep disorders as well. Another symptom of the disease is baldness.

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Human genetic disorders

You see, there are many different human genetic disorders that affect each individual in their own way. An individual may not have all the symptoms though. One of the saddest things about genetic disorders is that a child or adult’s life is disrupted because of what they are going through. However, there are still many who learn to live with their genetic disorder.


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