Cleft Lip or Palate

Cleft Lip A facial cleft occurs when parts of the lip or palate do not completely fuse together during the first 3 months of pregnancy. A cleft lip may appear as a small notch in the edge of the lip only or extend into the nose. It may also extend into the gums.

Club Foot

Club Foot Clubfoot is a birth defect that causes one or both of a baby's feet to turn inward and downward, giving the foot or feet a club-like appearance. Treatment usually involves a series of casts and braces to gradually move the foot into the right position. In rare cases, surgery might be required.

Cystic Fibrosis

Cystic Fibrosis (CF) Cystic fibrosis (CF) is a genetic disorder that affects the lungs and digestive system. More than 30,000 kids, teens, and young adults in the United States have CF. The CF gene disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and other organs.

Down Syndrome

Down Syndrome Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies born in the United States. The physical features and medical problems associated with Down syndrome can vary widely from child to child.

Huntington’s Chorea

Huntington’s Chorea Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Klinefelter’s Syndrome

Klinefelter’s Syndrome A genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males. Klinefelter syndrome adversely affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary.

Neural Tube Defect

Neural Tube Defect An NTD is an opening in the spinal cord or brain that occurs very early in human development. The early spinal cord of the embryo begins as a flat region, which rolls into a tube (the neural tube). When the neural tube does not close completely, an NTD develops. NTDs develop before most women know they are even pregnant. Open NTDs occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae (back bones).

Neurofibromatosis

Neurofibromatosis Neurofibromatosis (NF) can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities. NF is defined by tumors, that grow along nerves in the body or on or under the skin. As the tumors increase in size, they can press on vital areas of the body, causing problems in the way the body functions.

Phenylketonuria (PKU)

Phenylketonuria (fen-ul-ke-toe-NU-re-uh) is a birth defect that causes an amino acid called phenylalanine to build up in your body. Phenylketonuria is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine. Symptoms include: skin rashes, hyperactivity, mental retardation, odor of the breath/urine.

Sickle Cell Anemia

Sickle Cell Anemia Sickle cell disease is an inherited disorder in which red blood cells (RBCs) are abnormally shaped. This abnormality can result in painful episodes, serious infections, chronic anemia, and damage to body organs.

Spina Bifida

Spina Bifida Spina bifida is a birth defect that involves the incomplete development of the spinal cord or its coverings. The term spina bifida comes from Latin and literally means "split" or "open" spine. Spina bifida occurs at the end of the first month of pregnancy when the two sides of the embryo's spine fail to join together, leaving an open area. In some cases, the spinal cord or other membranes may push through this opening in the back.

Tay-Sachs Disease Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development

Thalassemia Thalassemia’s are a group of blood disorders that affect the way the body makes hemoglobin, a protein found in red blood cells that is responsible for carrying oxygen throughout the body. With thalassemia, the red blood cells are destroyed at a faster rate, leading to anemia, a condition that can cause fatigue and other complications.