Rasopathy
What to Expect

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What to Expect at Your First Visit to the Rasopathy Clinic

Every child is a gift. Unique. Special. One of a kind. When your child is born with a rare genetic disorder like one of the Rasopathy syndromes, you treasure them even more. But the care they need can be overwhelming and isolating. Most of these genetic conditions cause multiple medical issues and require several specialists.

That's where the Rasopathy Clinic at Cincinnati Children’s comes in. You’ll have access to our experts in genetics, gastroenterology, neurology and endocrinology, all in one place. We’ll also help you help manage your child’s medical treatments and testing.

You are not alone. We are committed to offering comprehensive care to your child, as well as supporting you and your whole family. You can enjoy your rare treasure, and they can experience a full life.

Making an Appointment for the Rasopathy Clinic

For more information or to make an appointment, contact us. Your child’s pediatrician can also refer you to our clinic.

For international patients, please fill out and send this online form. A staff member will contact you within 48 hours.

How to Prepare for Your First Visit to the Rasopathy Clinic

Please bring any of your child’s past genetic testing and medical records to your first appointment. It may be helpful to think about your personal and family history medical history.

On the Day of Your First Visit for the Rasopathy Clinic

Please let us know if you or your child have any concerns or special needs that will make your visit more comfortable.

Arriving at Your Appointment

The Rasopathy clinic sees patients at our Burnet campus and Liberty campus locations. Whether you are coming to our Burnet campus or Liberty campus location, our visiting section can help guide you.

We recommend you arrive about 30 minutes early. This allows you time to park, find our office, and register for your first visit. If you’ll be more than 30 minutes late, please contact us to let us know.

At Your Appointment

Your visits to the Rasopathy Clinic will be longer and may include more medical professionals than a typical visit to your family doctor. You will meet with a genetic counselor and a geneticist on your first visit. You also may see other providers like a neurologist.

The genetic counselor will meet with you to collect a detailed medical history. This includes your child’s prenatal history, birth history, developmental history, and family history. They also will provide details about the Rasopathies syndromes and discuss your child’s testing options or results.

The geneticist will perform a physical exam on your child. Then, they will recommend your next steps, which may include imaging studies, laboratory testing, and genetic testing. The geneticist also may recommend that your child see other specialists for further testing.

After Your First Visit at the Rasopathy Clinic

You will receive an “After-Visit Summary” at the end of your visit. It will include important details about upcoming appointments and test results. Your primary care doctor and/or referring physician will also receive this summary. If you choose to undergo testing, your genetic counselor will work with you to arrange the testing and will report the results to you when they are complete.

Frequently Asked Questions

What are the Rasopathies?

The rasopathies are a group of genetic conditions that are caused by genetic typos (called mutations) in a person’s DNA. Sections of our DNA make up our genes. There are numerous genes that are associated with the rasopathies. Mutations in these particular genes cause cells to have communication problems within a pathway called the RAS pathway.

The rasopathies include Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, and related disorders. These conditions are separate conditions but they can have overlapping features such as skin findings, feeding problems, learning disabilities, growth problems and heart problems.

There can be a wide range of symptoms seen in individuals with a rasopathy condition. An individual may be more mildly affected or more severely affected than their family member with the same genetic mutation.

How Does Someone Get Diagnosed with a Rasopathy?

In some patients, a diagnosis can be made after a physical exam. In other patients, a diagnosis can be made after imaging studies such as an MRI or an echocardiogram. Genetic testing can also be helpful in establishing a diagnosis.

Genetic testing is typically performed on a blood or saliva sample. This testing is like a spellcheck for DNA that is looking for genetic typos or mutations in genes that are associated with the rasopathies.

If a genetic test comes back positive, this means that a genetic mutation has been identified in that individual. This result can be helpful because it confirms the diagnosis and we can then offer testing to other family members.

A negative test result means that we weren’t able to identify the genetic cause for the rasopathy condition. Additional genetic testing may be recommended for an individual with negative test results. This person could still have a clinical diagnosis of a rasopathy condition, even if genetic testing was negative.

What is Dominant Inheritance?

Sometimes a genetic mutation is inherited from a parent who also has that same condition. Other times, a child has a new mutation that was not inherited from one of his or her parents. Once someone has a rasopathy condition, there is a 50 percent chance that they will pass on that mutation to each of their children. This is called as dominant inheritance.

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