Genetic Diseases

Also known as: genetic conditions, genetic disorders, hereditary diseases, hereditary disorders, inheritance disorders

What are genetic diseases?

Genetic diseases are conditions that occur due to a mutation in a gene in the body’s cells. Genetic diseases can be caused by a change to a single gene, many genes or damage to the overall chromosomes that carry the genes.

What causes genetic diseases?

Some genetic diseases are hereditary, which means they are passed along from parents to children. Others are caused by genes that start out normally but then mutate at some point later in life, either on their own or due to exposure to some toxin. In many cases, a combination of different factors leads to the gene mutation.

What are the symptoms of genetic diseases?

There are hundreds upon hundreds of genetic disorders, so the symptoms can vary widely depending on the type of disorder. The symptoms can range from very mild symptoms that are easy to live with to severe, life-threatening medical conditions.

What are genetic disease care options?

In most cases, genetic disorders cannot be cured or reversed. Quite a few, however, can be managed with supportive care and treatment of symptoms.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: February 05, 2020 03:09 PM

Clinical Genetics

Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.

Would you like to learn about more ways to get involved at Nicklaus Children's?*

Learn more about

Congenital Heart Defects/Disease

Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly. Would you like to learn about more ways to get involved at Nicklaus Children's?*

Down Syndrome

Babies with down syndrome have an extra full or partial piece of chromosome 21, this causes a variety of physical abnormalities. It is the commonest chromosomal disorder in the USA. Would you like to learn about more ways to get involved at Nicklaus Children's?*

Multiple Endocrine Neoplasia Type 1 and 2

Multiple endocrine neoplasia type 1 is a disease that affects several glands throughout the body, including the thyroid, parathyroid and pituitary gland. Would you like to learn about more ways to get involved at Nicklaus Children's?*

Genetic Screening

Genetic screening refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders. Would you like to learn about more ways to get involved at Nicklaus Children's?*

Genetic Counseling

Genetic counseling is a counseling session for parents or prospective parents to help them understand their risk of passing along genes and birth defects to children. Would you like to learn about more ways to get involved at Nicklaus Children's?*