Genetic Disorders

What are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.

You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.

Genetic disorders can be:

• Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material.
• Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use.
• Single-gene (monogenic): This group of conditions occurs from a single gene mutation.

What are common genetic disorders?

There are many types. They include:

Chromosomal disorders

• Down syndrome (Trisomy 21).
• FragileX syndrome.
• Klinefelter syndrome.
• Triple-X syndrome.
• Turner syndrome.
• Trisomy 18.
• Trisomy 13.

Multifactorial disorders

• Late-onset Alzheimer’s disease.
• Arthritis.
• Autism spectrum disorder, in most cases.
• Cancer, in most cases.
• Coronary artery disease.
• Diabetes.
• Migraine headaches.
• Spina bifida.
• Isolated congenital heart defects.

Monogenic disorders

• Cystic fibrosis.
• Deafness that’s present at birth (congenital).
• Duchenne muscular dystrophy.
• Familial hypercholesterolemia, a type of high cholesterol disease.
• Hemochromatosis (iron overload).
• Neurofibromatosis type 1 (NF1).
• Sickle cell disease.
• Tay-Sachs disease.

Are there other types of genetic disorders?

Genetic disorders may also cause rare diseases. This group of conditions affects fewer than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

• AA amyloidosis.
• Adrenoleukodystrophy (ALD).
• Ehlers-Danlos syndrome.
• Mitochondrial diseases.
• Usher syndrome.

What are the causes of genetic disorders?

To understand genetic disorder causes, it’s helpful to learn more about how your genes and DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins start complex cell interactions that help you stay healthy.

When a mutation occurs, it affects the genes’ protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include:

• Chemical exposure.
• Radiation exposure.
• Smoking.
• UV exposure from the sun.

What are the symptoms of genetic disorders?

Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may experience:

• Behavioral changes or disturbances.
• Breathing problems.
• Cognitive deficits, when the brain can’t process information as it should.
• Developmental delays that include challenges with speech or social skills.
• Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients.
• Limb or facial anomalies, which include missing fingers or a cleft lip and palate.
• Movement disorders due to muscle stiffness or weakness.
• Neurological issues such as seizures or stroke.
• Poor growth or short stature.
• Vision or hearing loss.

How are genetic disorders identified?

If you have a family history of a genetic disorder, you may wish to consider genetic counseling to see if genetic testing is appropriate for you. Lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation does not always mean you’ll end up with it. Genetic counselors can explain your risk and if there are steps you can take to protect your health.

If there’s a family history, DNA testing for genetic disorders can be an important part of starting a family. Options include:

• Carrier testing: This blood test shows whether you or your partner carry a mutation linked to genetic disorders. This is recommended for everyone considering pregnancy, even if there is no family history.
• Prenatal screening: This testing usually involves blood testing from a pregnant person that tells them how likely it is that a fetus could have a common chromosome condition.
• Prenatal diagnostic testing: You can find out whether the developing fetus faces a higher risk for certain genetic disorders. Prenatal testing uses a sample of fluid from your uterus (amniocentesis).
• Newborn screening: This test uses a sample of your newborn baby’s blood and is performed on all babies born in Ohio. Detecting genetic disorders early in life can help your child receive timely care if needed.

What is treatment for genetic disorders like?

Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment that’s right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early.

You may need:

• Medications to manage symptoms or chemotherapy to slow abnormal cell growth.
• Nutrition counseling or dietary supplements to help you get the nutrients your body needs.
• Physical, occupational or speech therapy to maximize your abilities.
• Blood transfusion to restore levels of healthy blood cells.
• Surgery to repair abnormal structures or treat complications.
• Specialized treatments, such as radiation therapy for cancer.
• Organ transplant, which is a procedure to replace a nonfunctioning organ with one from a healthy donor.

How can I prevent a genetic disorder?

There is often little you can do to prevent a genetic disorder. But genetic counseling and testing can help you learn more about your risk. It can also let you know the likelihood of passing some disorders on to your children.

What is the outlook for people with genetic disorders?

Some conditions, including certain rare and congenital diseases, have a grim prognosis. Children born with anencephaly typically survive only a few days. Other conditions, like an isolated cleft lip, do not affect lifespan. But you may need regular, specialized care to stay comfortable.

What do I need to know about living with a genetic disorder?

When you are living with a genetic disorder, you may have frequent medical needs. It’s important to see a healthcare provider specializing in the condition. They are more likely to know which treatments are best for your needs.

You may also benefit from the support of others. Genetic disorders often have local or national support groups. These organizations can help you access resources that make life a little easier. They may also host events where you can meet other families going through similar challenges.

A note from Cleveland Clinic

Genetic disorders occur when a mutation affects your genes or chromosomes. Some disorders cause symptoms at birth, while others develop over time. Genetic testing can help you learn more about the likelihood of experiencing a genetic disorder. If you or a loved one have a genetic disorder, it’s important to seek care from an experienced specialist. You may be able to get additional information and help from support groups.