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Legius syndrome is a rare genetic condition. Kids who have it have multiple café-au-lait spots on their skin and might be slower to walk, talk, and reach other milestones than most kids.
Marfan syndrome affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Even though the disease has no cure, doctors can successfully treat just about all of its symptoms.
Muscular dystrophy is a disorder that weakens a person's muscles over time. People who have the disease can gradually lose the ability to do everyday tasks.
Neurocutaneous syndromes are genetic disorders that lead to tumor growth in various parts of the body. Learn how to maximize the quality of life for children with these diseases.
Neurofibromatosis type 1 (NF1) is a genetic condition that causes benign tumors in and under the skin, often with bone, hormone, and other problems. Learn more about how it's diagnosed and treated.
Newborn screening tests look for health conditions that aren't apparent at birth. Find out which tests are done.
Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, and usually includes heart problems.
Phenylketonuria (PKU) is a metabolic disorder caused by a defect in the enzyme that breaks down an amino acid. PKU is treatable when it is found early.
Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.
Pyruvate kinase deficiency is a condition that can lead to anemia. Most people with the condition lead a healthy life.