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.

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