Genetic disorders are caused by changes in the DNA sequence that deviate from the normal sequence. These changes can range from tiny to severe, from a discrete mutation in a single DNA base of a single gene to a serious chromosomal abnormality involving the addition or subtraction of an entire chromosome or a set of chromosomes. Some genetic disorders are inherited from parents, while others are caused by acquired changes or mutations in a preexisting gene or group of genes. Albinism is an example of a rare syndrome that causes physical and intellectual disability and is inherited from a single gene.
Thousands of single-gene disorders, also known as monogenetic disorders, are known. Examples of multifactorial inheritance include fingerprint patterns, height, eye color, and skin color. If you have a family history of a genetic disorder, you may want to consider genetic counseling to see if genetic testing is appropriate for you. Chromosomes carry genetic material, so abnormalities in the number or structure of chromosomes can cause diseases.
If you or someone you know has a genetic disorder, it's important to seek care from an experienced specialist. If there is a family history, DNA testing for genetic disorders can be an important part of starting a family. Additionally, research on the brain has revealed that both genetic factors and experiences play an essential role in brain development. This list of genetic, orphan and rare diseases is provided for informational purposes only and is not exhaustive.
To understand the causes of a genetic disorder, it's helpful to learn more about how genes and DNA work. Treatment for genetic disorders depends on the type and severity of the disorder. It may include medications, lifestyle changes, physical therapy, surgery, or other treatments.
