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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

Neonatal Hypoxic-Ischemic Encephalopathy What is neonatal hypoxic-ischemic encephalopathy? Hypoxic-ischemic encephalopathy (HIE) is a type of brain damage. It’s caused by a lack of oxygen to the brain before or shortly after birth. It affects the central nervous system. Babies

Retinopathy of Prematurity What is retinopathy of prematurity? Retinopathy of prematurity is an eye problem that can happen to premature babies. The retina lines the back of the eye. It receives light as it comes through the pupil. From there, the optic nerve sends signals to the

Prenatal Medical Care The importance of early prenatal medical care As soon as you find out you are pregnant, you should work with your healthcare provider to set up a schedule of prenatal care. For normal pregnancies without major complications, prenatal exams are often

Omphalocele What is an omphalocele? An omphalocele is a birth defect. It happens when your baby is forming during pregnancy. In this condition, some of your baby’s abdominal organs poke out (protrude) from the belly through the belly button (umbilicus). A clear (translucent)

Rubella (German Measles) What is rubella? Rubella is sometimes called German measles. It's a viral infection. It usually causes a mild illness in children. Adults have a slightly more severe illness. But the virus can cause serious birth defects in pregnant people. A vaccine is

Persistent Pulmonary Hypertension in the Newborn What is persistent pulmonary hypertension (PPHN) in the newborn? Persistent pulmonary hypertension (PPHN) happens in newborn babies. It occurs when a newborn’s circulation continues to flow as it did while in the uterus. When this

Polycystic Ovary Syndrome (PCOS) What is polycystic ovary syndrome (PCOS)? Polycystic ovary syndrome (PCOS) is a set of symptoms caused by a problem with a woman’s hormones. It affects the ovaries. These are the small organs that store a woman’s eggs. But it can also affect the

Puncture Wounds in Children What is a puncture wound? A puncture wound is a deep wound made by a sharp object, such as a nail or a jagged piece of metal or wood. Puncture wounds may be small and not seem serious. But they do need to be treated by a healthcare provider. Puncture

Addison Disease in Children What is Addison disease in a child? Addison disease, also called primary adrenal insufficiency, is when the adrenal glands don't make enough of the "stress" hormone called cortisol. Cortisol controls metabolism, blocks inflammatory reactions, and