Newborn Babies - Birth Defects

A birth defect is an abnormality that occurs in the development of the body, its function, or its chemical or metabolic makeup. Birth defects may result in physical or mental disability, and some can be fatal. There are over 4,000 known birth defects. Other terms used for birth defects include congenital abnormalities, anomalies, and malformations.

Birth defects may be caused by genetic (inherited) problems or by environmental factors such as exposure to certain toxic substances. Some birth defects can be linked to a direct cause. Other reasons are not as clear. Over two-thirds of birth defects have unknown causes.

Some birth defects are more common than others, include the following:

  • umbilical hernia
    When the fetus is growing and developing during pregnancy, there is a small opening in the abdominal muscles so that the umbilical cord can pass through, connecting the mother to the baby. After birth, the opening in the abdominal muscles closes as the baby matures. Sometimes, these muscles do not meet and grow together completely, and there is still a small opening present. A loop of intestine can move into the opening between the abdominal muscles and cause a hernia.

    Occasionally, the loop of intestine that protrudes through a hernia may become stuck, and cannot be gently pushed back into the abdominal cavity. When this happens, that section of intestine may lose its blood supply. A good blood supply is necessary for the intestine to be healthy and function properly. Umbilical hernias sometimes close on their own. Surgery may be needed depending on the size of the umbilical hernia, and whether or not it can be reduced.
  • cleft lip and cleft palate
    Cleft lip and cleft palate are birth abnormalities of the mouth and lip. These abnormalities affect about one in every 1,000 births. Cleft lip and cleft palate occur early in pregnancy when the sides of the lip and the roof of the mouth do not fuse together as they should. Cleft lip and/or cleft palette are caused by multiple genes inherited from both parents, as well as environmental factors that scientists do not yet fully understand.

    Cleft palate occurs when the roof of the mouth does not completely close, leaving an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). Often the cleft will also include the lip. Cleft palate is not as noticeable as cleft lip because it is inside the mouth. It may be the only abnormality in the child, or it may be associated with cleft lip or other syndromes. In many cases, other family members have also had a cleft palate at birth.

    Cleft lip is an abnormality in which the lip does not completely form in utero. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose). As a parent, it may be stressful to adjust to the obvious abnormality of the face, as it can be very noticeable.

    The most common problem with cleft lip and cleft palate is feeding the baby. Sucking may be difficult because the lips and roof of the mouth cannot close properly. Special nipples and feeding techniques can be used to help these babies get the proper nutrition. Cleft lip and cleft palate may also cause difficulties with speech and language because of the abnormalities in the mouth. Other problems associated with cleft lip and cleft palate include ear infections and dental problems.

    Treatment for cleft lip and cleft palate includes surgery. Most infants with cleft lip alone can be repaired within the first several months of life. Cleft palate repairs are usually done when the baby, between the ages of 9 to 18 months, but before the age of 2.
  • clubfoot
    Clubfoot, also known as talipes equinovarus, is a congenital (present at birth) foot deformity. It affects the bones, muscles, tendons, and blood vessels and can affect one or both feet. The foot is usually short and broad in appearance and the heel points downward while the front half of the foot (forefoot) turns inward. The heel cord (Achilles tendon) is tight. The heel can appear narrow and the muscles in the calf are smaller compared to a normal lower leg. It occurs in about one in every 1,000 live births and affects boys twice as often as girls. Fifty percent of the cases of clubfoot affect both feet.

    Clubfoot is considered a "multifactorial trait." Multifactorial inheritance means there are many factors involved in causing a birth defect. The factors are usually both genetic and environmental.

    Specific treatment will be determined by your child's physician, but the goal of treatment is to straighten the foot so that it can grow and develop normally. Treatment options for infants may include placing a series of casts on the foot to help stretch the soft tissues and return the foot to a normal position. Casting will correct clubfoot in many babies. Other babies may require surgery to help correct the position of the foot.
  • hypospadias
    Hypospadias is a birth defect in which the male urethral (urine tube) opening is not located at the tip of the penis. With hypospadias, the urethral opening may be located anywhere along the urethra, but is most commonly along the underside of the penis near the tip. As the fetus develops, the urethra does not grow to its complete length. Also, the foreskin does not develop completely which typically leaves extra foreskin on the topside of the penis and no foreskin on the underside of the penis. The end of the penis may be curved downward.

    Hypospadias is a disorder that primarily affects male newborns. It occurs in about four out of 1,000 births. Some newborn boys who have other congenital abnormalities like undescended testes or inguinal hernias may also have hypospadias. In very rare situations, a female newborn may have hypospadias where the urethral opening enters into the vaginal opening.

    Hypospadias can be repaired through surgery. Usually the surgical repair is done when the baby is between 6 and 12 months old, when penile growth is minimal. At birth the baby will not be able to undergo circumcision, as the extra foreskin may be needed for the surgical repair.

  • developmental dysplasia of the hip
    Developmental dysplasia of the hip (DDH) is a congenital (present at birth) condition of the hip joint. It occurs once in every 1000 live births. The hip joint is created as a ball and socket joint. In DDH, the hip socket may be shallow, letting the "ball" of the long leg bone, also known as the femoral head, slip in and out of the socket. The "ball" may move partially or completely out of the hip socket.

    Hip dysplasia is considered a "multifactorial trait." Multifactorial inheritance means that many factors are involved in causing a birth defect. The factors are usually both genetic and environmental.

    All newborn babies are screened in the hospital for this hip problem before they go home. However, DDH may not be discovered until later check ups.

    The goal of treatment is to put the femoral head back into the socket of the hip so that the hip can develop normally. Treatment options for infants may include having the baby wear a special harness to hold the hips in place, using traction (a system of weights to stretch the tissues), placing the baby in a cast, or for cases that do not respond to other treatments, surgery may be needed.

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