WebIt is also called cloverleaf skull. Oxycephaly: A birth defect characterized by abnormalities in the skull and facial bones. This syndrome causes the top of the skull to be pointed or cone-shaped. It is caused by a premature … WebIsolated congenital heart defects. Monogenic disorders Cystic fibrosis. Deafness that’s present at birth (congenital). Duchenne muscular dystrophy. Familial hypercholesterolemia, a type of high cholesterol disease. Hemochromatosis (iron overload). Neurofibromatosis type 1 (NF1). Sickle cell disease. Tay-Sachs disease.
Birth Defects (for Parents) - Nemours KidsHealth
WebExamples of genetic disorders that can be diagnosed before birth include: Cystic fibrosis Duchenne muscular dystrophy Hemophilia A Polycystic kidney disease Sickle cell disease Tay-Sachs disease Thalassemia The following screening methods are available during pregnancy: Alpha-fetoprotein (AFP) test or multiple marker test Amniocentesis WebJul 26, 2024 · The disease is caused by a hiccup in the process that provides energy to our cells. In particular, it’s caused by low levels of an enzyme – fumarase – that helps to drive it. Since it was perfected... truglo bright sight paint kit
Birth Defects and Infant Disorders Resources CDC
WebGenetic Disorders & Birth Defects Phenylketonuria (PKU) Phenylketonuria (PKU) is a metabolic disease caused by a genetic mutation. This disease used to be very difficult to diagnose, but for the last 40+ Genetic Disorders & Birth Defects Cerebral Palsy Cerebral palsy refers to a group of conditions that affect control of movement and posture. WebBirth defects may range from mild to serious health conditions. Birth defects can happen at any time during pregnancy. But most happen during the first 3 months of pregnancy (also called first trimester), when your baby’s organs are forming. Birth defects also can … WebNov 30, 2016 · Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed. philip mayer seattle central