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: December 18, 2020 05:00 PM
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.
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.
CDKL5 (Cyclin-Dependent Kinase-Like 5) is a gene located on the X-chromosome. The CDKL5 gene is required to function normally for a normal brain to develop.
Genetic screening refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders.
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.