Rasopathy | Glossary

Benign raised birthmarks on the skin. Café au lait spots can also be referred to as “CAL spots.” These birthmarks can be present at birth or might develop over time. CAL spots can also change shape and grow in size. Neurofibromatosis type 1 is suspected when a person has more than six CAL spots. CAL spots can also be seen in patients with some of the other rasopathy conditions.

A genetic condition that can cause heart defects, distinctive facial features, skin abnormalities and intellectual disabilities. Learn more.

A doctor who specializes in the heart. Since some patients with a rasopathy might have heart defects, patients are often sent to cardiology for an evaluation.

A genetic condition that can cause heart defects, distinctive facial features, skeletal abnormalities, malignant tumors and intellectual disabilities. Learn more.

A type of ultrasound that looks at the heart. Since some patients with a rasopathy might have heart problems, patients are often sent for an echocardiogram, also known as an “echo.”

A doctor who specializes in the glands of the body, such as a thyroid gland. Since some patients with a rasopathy might have endocrine or hormone problems, patients are often sent to endocrinology for an evaluation.

Genetic testing did not find a genetic mutation in any of the tested genes. It is still possible that the patient has a genetic condition. Additional genetic testing may be recommended.

Genetic testing found a genetic mutation in a gene which has confirmed a diagnosis of a rasopathy. Genetic testing the patient’s family members may be recommended to see if anyone else in the family also has this disorder.

The genetic test found a genetic change in a gene, but it is uncertain what this genetic change means. Genetic testing of additional family members may be recommended to help determine what this genetic change means for the patient.

A “spellcheck” of a person’s DNA to identify genetic mutations. The rasopathies are genetic conditions caused by genetic mutations in our DNA.

A daily injection that helps children grow. This treatment can be used in children with short stature, including individuals with Noonan syndrome. Learn more.

A heart defect in which the heart muscle is thickened. This heart problem can be seen in patients with Noonan syndrome. Learn more.

Flat, black-brown spots on the skin that mostly appear on the upper part of a person’s body including neck and face. These spots typically appear when a person is 4-5 years old and multiply over time, especially during puberty.

Benign growths that are present in the colored part of the eye (the iris). Lisch nodules do not cause vision problems, and no treatment is needed. Lisch nodules are often present in individuals with neurofibromatosis type 1.

A genetic condition that can cause birthmarks and freckles on the skin, pigmentary changes in the iris of the eye, and tumors that develop in the skin, brain and other body parts.

A doctor who specializes in the nervous system, including the brain. Since some patients with a rasopathy might have neurological issues such as seizures, patients are often sent to neurology for an evaluation.

A genetic condition that can cause heart defects, short stature, bleeding disorders, distinctive facial features and learning disabilities. Learn more.

A genetic condition that can cause heart defects, short stature, bleeding disorders, distinctive skin findings and learning disabilities. This condition was formerly called LEOPARD syndrome.

A specialized eye doctor. Since some patients with a rasopathy might have vision problems, patients are often sent to an ophthalmologist for an evaluation.

A benign brain tumor that grows on the optic nerve. Optic nerve gliomas can be seen in individuals with NF1. As a result, routine brain imaging (MRI) and ophthalmology evaluations are recommended to monitor for optic nerve gliomas. While most optic nerve gliomas are stable and do not cause problems, it is possible for them to grow and impact vision. 

A doctor who specializes in the muscles and the skeletal system. Since some patients with a rasopathy might have skeletal problems like scoliosis, patients are often sent to orthopaedics for an evaluation. 

A heart defect in which blood is restricted and not able to flow from the right ventricle to the pulmonary artery as well as it should. This heart problem can be seen in patients with Noonan syndrome. Learn more.