Down syndrome is one of the most common genetic conditions people are born with. It happens when they have an extra copy of a part of their DNA called a chromosome. This extra copy, chromosome 21, can change how a person looks, grows and learns.

Kids with Down syndrome may have some of these features:

• Eyes that slant upward
• Small ears that may fold at the top
• A small nose with a flat bridge
• A small mouth, making the tongue appear large
• A short neck
• Small hands with short fingers, or unique creases in their palms

They may also have heart problems, hearing or vision problems or low muscle tone. How serious these problems are is different for all people with Down syndrome.

Not all cases of Down syndrome are the same. There are three types, based on how the chromosomes are arranged. Each type starts in a different way, but they all share certain traits.

Trisomy Down Syndrome

Trisomy is the most common form of Down syndrome. It happens when there are three copies of a chromosome instead of two. In trisomy 21, a baby is born with three copies of chromosome 21, leading to Down syndrome.

Trisomy can affect other chromosomes as well, such as chromosomes 13 and 18. These cause different chromosome diseases.

Translocation Down Syndrome

In translocation Down syndrome, part of chromosome 21 attaches to another chromosome. Even though the number of chromosomes stays the same, the extra chromosome 21 material causes Down syndrome. A parent can pass this form down to their child.

If a child has this type, doctors test the parents' chromosomes to see if one of them has the translocation. This usually doesn’t cause any health issues in the parents. But it can cause miscarriages, trouble getting pregnant or a higher chance of having a child with health issues.

Mosaic Down Syndrome

Mosaic Down syndrome is the least common form of Down syndrome. It happens when a person has two types of cells. Some cells have the usual two copies of chromosome 21, and some have three copies.

Because the number of changed cells varies, mosaic Down syndrome can look different in people. The signs can be mild, or a person can show most of the traits of trisomy Down syndrome.

Caring for a family member with Down syndrome comes with daily challenges. We offer care for kids and adults with Down syndrome. We also connect you to resources across the country to support your entire family.

Down Syndrome Program

We offer total care for the unique needs of people with Down syndrome and their families. Our Down Syndrome Program address each person’s health and wellness needs at every stage of life. We also give detailed guidance for your child or family member’s primary care doctor.

We normally have visits on the first or second Friday of each month. Each visit is set up for your family member’s needs and concerns. We’re here to help you every step of the way.

Genetics and Genomics Support Groups

We connect you with many resources, support groups and programs for people with a family member who has Down syndrome. The Genetic Alliance connects families to many different groups for Down syndrome support.

Support groups and programs:

• National Down Syndrome Congress (NDSC): They give support and information to help people with Down syndrome and their families speak up for their rights.
• National Down Syndrome Society (NDSS): They make sure people with Down syndrome get fair treatment, support for their families and inclusion.
• National Organization for Rare Disorders (NORD): They work with groups that help people with Down syndrome.
• Sibling Support Project: They support siblings of people with health concerns, such as Down syndrome.
• SOFT: They support families affected by trisomy 18, trisomy 13 and related disorders.
• The Compassionate Friends: They support families after a child’s death.

Our Down Syndrome Program is a top center for caring for kids and teens with Down syndrome.

Pediatric expertise: Children’s Wisconsin is dedicated solely to kids, with more than 70 pediatric specialties. No matter what your child needs, we can connect you with the right experts and coordinate care every step of the way. 

Compassionate care: We listen with empathy and understand the challenges families face. Our experts bring both professional expertise and personal experience with Down syndrome to support your child and family.

People with Down syndrome commonly receive care from multiple specialists. No referral is needed to schedule an appointment. Patients and families may refer themselves to Children's Wisconsin. A primary care physician or other health care specialist also may refer patients and families. Staff at Children's Wisconsin can provide families with specialist referrals as well as updated information on health and wellness topics.

Families who have children or an adult relative with Down syndrome visit Children's Wisconsin for many different reasons, including:

• They may have a specific issue or concerns about their child's or family member's health and well-being. These concerns may relate to a recurring issue that remains unresolved or a new problem that has recently surfaced.
• They want to be sure they're on track with their child’s or family member's health care. For many families, this is the first time their family member has been examined by a specialist with expertise in caring for people with Down syndrome.
• The patient with Down syndrome or the family is entering a developmental or transitional stage that may require extra support, information or guidance. For example, new parents may be transitioning from birth to an early childhood program. Or, a child may be entering school for the first time, going through puberty or moving from home into the community. These are especially challenging times in the lives of people with Down syndrome.

For questions or to schedule a visit, please call (414) 266-6259.

If you’re from out of town, please call (414) 266-6300. Our Access Center will help you set up visits to Children's Wisconsin. They can also help with lodging and offer other support.

Before

Before your first visit, we will send you a packet that includes:

• A brochure of the services we offer
• A letter with your visit time(s) and location(s)
• A Down syndrome health history form
• Medical release forms

Please fill out these forms and send them back to us before your visit.

During

All new patients will meet with our team of experts. If needed, they will have a complete physical exam that includes:

• A hearing test
• Lab work
• X-rays

We’ll talk with your family and hear any concerns you have. This might include nutrition, feeding, speech or therapy needs. We also offer genetic counseling.

After

After your visit, we’ll send you and your child or family member’s doctor a report with the next steps. We’ll also share a copy of “Health Care Guidelines for People with Down Syndrome.” If we ran tests, such as lab work or X-rays, we’ll call you with the results and talk about any follow-up care. We may also make referrals to other experts, if needed.

Many of our patients experience anxiety related to health care procedures and physician visits. A social story is one tool or strategy for giving your child or family member information about what to expect. Preparing them for what will happen can reduce anxiety and illustrate socially appropriate behavior. Many of our parents have reported success with the social stories below.

• Here we go... to the Dentist
• Here we go... for an EEG
• Here we go... to Imaging
• Going for a sleep study
• Going to get my sleep mask

Health Care Guidelines for People With Down Syndrome

Pediatric Guidelines

• CURRENT! Down syndrome growth charts from the CDC
• For physicians - 2022 (English PDF)
• For physicians - 2011 (Spanish PDF)