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Birth Defects in Children What is a birth defect in a child? A birth defect (congenital anomaly) is a health problem or abnormal physical change that is present when a baby is born. Birth defects can be very mild, where the baby looks and acts like any other baby. Or birth

Trinucleotide Repeats: Fragile X Syndrome What are trinucleotide repeats? DNA is the chemical that makes up your genes. It contains a "code" of 3-letter words known as codons or trinucleotides. Many genes normally contain trinucleotide sequences that repeat. These are called

Uniparental Disomy: Prader-Willi Syndrome and Angelman Syndrome What is uniparental disomy? Chromosome pairs affect how our body works. Normally, a baby gets one copy of each chromosome pair from each birth parent. In rare cases, two copies come from the same parent. This is

The Heart Click on the links below to learn more about this topic. About the Heart and Blood Vessels Anatomy and Function of the Heart Valves Anatomy and Function of the Electrical System Heart Transplantation© 2000-2026 The StayWell Company, LLC. All rights reserved. This

Overview of Kidney Disorders in Children How do the kidneys work? Your child's body takes nutrients from food and converts them into energy. After your child's body has taken the nutrients it needs, waste products are left behind. They are left in the bowel and in the blood. The

Genetic Disorders Associated with Congenital Heart Disease Click on the links below to learn more about these topics. Down Syndrome Marfan Syndrome 22q11.2 Deletion Syndrome© 2000-2026 The StayWell Company, LLC. All rights reserved. This information is not intended as a

Maternal and Fetal Testing Overview Most people have healthy pregnancies, and their babies are born without trouble. But if you have a high-risk pregnancy, you may need to be closely watched for possible problems. There are tests and procedures that can help keep track of your

Cystic Fibrosis Overview What is cystic fibrosis? Cystic fibrosis (CF) is an inherited disease of the glands that make mucus and sweat. People with CF get a defective gene from both parents. People who have one defective gene from one parent are called carriers. They don't have

Osteomyelitis in Children What is acute osteomyelitis in children? Acute osteomyelitis is an infection in the bone. It develops over a short time, usually about 2 weeks. In children, osteomyelitis is more common in the long bones of the arms and legs; however, it can affect any

Cholesterol, LDL, HDL, and Triglycerides in Children and Teens What is cholesterol? Cholesterol is a fat-like, waxy substance. It can be found in all parts of your child's body. It helps make cell membranes, some hormones, and vitamin D. The cholesterol in blood comes from 2