Genetic diseases occur when changes in one or more genes or chromosomes impact how the body grows and works. Some genetic diseases are passed down in families. Others happen by chance before birth.

These diseases can cause many health problems and often begin before birth. When they start before birth, we refer to them as congenital differences.

They may impact growth, development, movement or learning. Doctors and parents may notice signs before birth or soon after. These include things such as low muscle tone, feeding issues or delays in development.

There are many types of genetic diseases. The conditions below are some of the main kinds.

Single-Gene Diseases

Single-gene diseases happen when a change occurs in a single gene. Parents can pass them down in different ways. This depends on the location of the gene and whether one or two copies cause the condition.

Chromosome Diseases

Chromosome diseases are conditions caused by changes in a person’s chromosomes. They happen when the number or form of chromosomes changes, or when some cells have a different chromosome makeup.

Multifactorial Inheritance

Some conditions happen because of many factors. They are usually genetic and environmental, or non-genetic. This is multifactorial inheritance.

These types of conditions can run in families because genes play a part in causing them. But the chances of them happening again depend on how closely you’re related to someone who has it. Some of these conditions impact one gender more than the other.

Non-Traditional Inheritance

Non-traditional inheritance refers to when families pass down genes in ways that don’t follow the normal patterns.

Types of non-traditional inheritance include:

• Uniparental disomy: This happens when both copies of a chromosome come from one parent instead of one from each. It can cause Prader-Willi syndrome. That causes weak muscles and crying in babies and strong food cravings in early childhood. It can also cause Angelman syndrome. That impacts movement, speech and causes frequent smiling or laughing.
• Trinucleotide repeats: This occurs when a small piece of DNA repeats too many times. This can lead to conditions like Fragile-X syndrome, which causes delays in speech, language and motor skills.
• Mitochondrial inheritance: Mothers pass these gene changes to all their kids. Fathers do not pass them on. One example is Leber's Hereditary Optic Atrophy. That causes painless vision loss between ages 12 and 30.

Our Genomic Medicine Program is the first in the United States to make advanced genetic testing a regular part of our care. Our doctors and genetic experts work closely with the Mellowes Center at the Medical College of Wisconsin. Together, they help find answers and guide treatment for each child, as well as support adults with genetic conditions.

What our program offers:

• Medical evals: We do a health check to look for signs of a genetic condition.
• Pretest education: We explain what a genetic test is and what it might show.
• Genome sequencing: We do genetic testing to find possible answers to health problems.
• Result review: We explain the test results and what they mean for your child’s health.
• Treatment planning: We help plan the best care based on the results.