Birth Defects and Genetic Disorders

Anorectal malformations are birth defects, or problems that happen as an unborn baby is developing during pregnancy. With this defect, the anus and rectum don’t develop properly. They are the lower part of the digestive tract.

A birth defect 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 defects can be more severe. Read on to learn more.

Down syndrome is a genetic disorder that includes certain birth defects, learning problems, and facial features. Read on to learn more details about this disorder.

A diaphragmatic hernia is a birth defect. It happens in a baby during pregnancy. In this condition, there’s an opening in your baby’s diaphragm. This is the muscle that separates the chest cavity from the abdominal cavity.

A baby with hydrocephalus has extra fluid around the brain. This fluid is called cerebrospinal fluid (CSF). Too much CSF can increase the pressure in your baby’s head. This causes the bones in your baby’s skull to expand and separate. The baby's head may look larger than normal.

Hypospadias is a problem where the opening of the urethra is not at the tip of the penis. With hypospadias, the end of the tube is lower down on the underside of the penis. Or it may be in the scrotum.

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) through an opening in the abdominal muscles. This area is in the umbilical cord. A clear (translucent) membrane covers the organs.

Pyloric stenosis is a problem that causes forceful vomiting. It affects babies from birth to 6 months of age. It can lead to dehydration. This condition is the second most common reason why newborns have surgery.

Spina bifida is a birth defect that causes problems with the spine, spinal cord, and the surrounding nerves.

Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.

A detailed look at Turner syndrome, a genetic disorder that occurs in girls.

Cleft lip and palate are openings or splits in the upper lip or roof of the mouth (palate). A child can be born with a cleft lip, cleft palate, or both. Cleft lip and palate may be the only birth defects, or they may happen with other defects.

In a normal hip joint, the top (head) of the thighbone (femur) fits snugly into the hip socket. In a child with DDH, the hip socket is shallow. As a result, the head of the femur may slip in and out.

Clubfoot is a deformity of the foot. It's when one or both feet are turned inward. The condition affects the bones, muscles, tendons, and blood vessels. Read on to learn more about this condition.

Open neural tube defects (ONTDs) are problems with the way the brain, spinal cord, or spine forms while a baby is growing in the mother's uterus.

Birth defects may be caused by inherited (genetic) problems or by environmental things, such as exposure to certain toxic substances during pregnancy. Some birth defects can be linked to a direct cause. Other reasons are not as clear.

A hernia is when a part of the intestine pushes through a weak spot in the belly (abdominal) muscles. The hernia creates a soft lump or bulge under the skin.