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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

Diaphragmatic Hernia in Children What is a diaphragmatic hernia in children? A diaphragmatic hernia is a birth defect that occurs in about 1 out of 2,500 newborns. It happens in a baby during pregnancy. In this condition, there's an opening in your baby's diaphragm. This is the

Gastroesophageal Reflux in Children What is gastroesophageal reflux in children? Gastroesophageal refers to the stomach and esophagus. The esophagus is the tube that connects the throat to the stomach. Reflux means to flow back or return. Reflux happens because the lower

Hypospadias in Children What is hypospadias in children? Hypospadias is a problem where the opening of the urethra is not at the tip of the penis. The urethra is the tube that carries urine from the bladder to the outside of the body. With hypospadias, the end of the tube is