Owl's Info on Birth Defects

Some birth defects include:

Cerebral Palsy

  • Description: Cerebral Palsy is a general term for a variety of motor system disorders. The symptoms can include lack of coordination, stiffness, jerkiness, difficulty in speech, and paralysis.
  • Causes: Cerebral palsy results from brain damage before, during, or shortly after birth. The causes of the brain damage vary.
  • Detection: The symptoms usually become recognizable sometime during the first year of life.
  • Treatment: The brain damage associated with cerebral palsy is irreversible. However, physical therapy, speech therapy, occupational therapy, surgery, and medication can minimize the disabilities in many cases.

    Cleft Lip and/or Cleft Palate

  • Description: A gap in the upper lip and/or palate causes problems with eating, swallowing, speech, and appearance.
  • Causes: Often the cause is unknown; it may be hereditary and/or environmental.
  • Detection: Both cleft lip and cleft palate are apparent at birth.
  • Treatment: Surgery can correct the gap and eliminate the problems associated with it.

    Cystic Fibrosis

  • Description: Cystic fibrosis is a functional defect that involves the respiratory and digestive systems. Many of those affected die before reaching adulthood.
  • Cause: This is a hereditary condition, carried on a recessive gene. An affected child has two copies of the defective gene, one from each parent.
  • Detection: Tests can identify carriers of the gene and can diagnose an affected child or fetus.
  • Treatment: There is no known cure for cystic fibrosis. Those affected can be helped by special diets, lung exercises, and treatment of any complications.

    Down Syndrome

  • Description: Down syndrome is a group of associated defects that may include mental retardation, delayed development, heart defects, and other characteristics.
  • Cause: Down syndrome is caused by a chromosomal error. For reasons not yet understood, there is an extra chromosome 21.
  • Detection: The syndrome is detected by an analysis of the chromosomes. Amniocentesis or chorionic villi sampling can detect the syndrome in a fetus.
  • Treatment: Those affected benefit from special therapy and schooling and, in some cases, from corrective surgery.

    Muscular Dystrophy

  • Description: There are many different types of muscular dystrophy; all involve a progressive weakness and shrinking of the muscles. The most common form begins between the ages of two and six.
  • Causes: Most types of muscular dystrophy are hereditary. The most common form is transmitted by female carriers of the gene but affects only males.
  • Detection: The disease is apparent at its onset. Genetic counseling can identify carriers.
  • Treatment: There is no known cure. Physical therapy can minimize the disabilities.

    PKU

  • Description: PKU is a condition in which the body is unable to process and use a specific protein. Mental retardation can result.
  • Cause: This is a hereditary condition, carried on a recessive gene. An affected child has two copies of the defective gene, one from each parent.
  • Detection: Newborns are tested for PKU, as required by law in all states.
  • Treatment: There is no known cure for PKU. If it is diagnosed early, a special diet can reduce or prevent brain damage.

    Sickle-cell Anemia

  • Description: Malformed red blood cells interfere with the supple of oxygen to all parts of the body. The symptoms include tiredness, lack of appetite, and pain. Sickle-cell anemia can lead to early death.
  • Cause: This is a hereditary condition, carried on a recessive gene. An affected child has two copies of the defective gene, one from each parent.
  • Detection: Sickle-cell anemia can be detected by blood tests. Amniocentesis or chorionic villi sampling can identify anemia in a fetus. Genetic counseling can identify carriers.
  • Treatment: There is no known cure for sickle-cell anemia. Medication can treat the symptoms.

    Spina Bifida and/or Hydrocephalus

  • Description: Spina bifida is a condition in which an incompletely formed spinal cord causes partial paralysis. Spina bifida often occurs with hydrocephalus, a condition in which an excess of fluid surrounds the brain, which can lead to brain damage.
  • Causes: Both hereditary and environmental factors may cause these conditions.
  • Detection: Both conditions are apparent at birth. A combination of tests of the mother's blood, amniocentesis, and ultrasound can reveal suspected cases in a fetus.
  • Treatment: Any paralysis or brain damage associated with these conditions is permanent. Corrective surgery, physical therapy, and special schooling can minimize disabilities. Hydrocephalus can often be controlled by an operation performed shortly after birth.

    Tay-Sachs Disease

  • Description: Babies born with Tay-Sachs disease lack a specific chemical in their blood, resulting in an inability to process and use fats. Tay-Sachs leads to severe brain damage and to death, usually by the age of two or three.
  • Cause: This is a hereditary condition, carried on a recessive gene. An affected child has two copies of the defective gene, one from each parent.
  • Detection: Blood tests can identify carriers and can test for the disorder in a newborn. Amniocentesis or chorionic villi sampling can identify Tay-Sachs disease in a fetus.
  • Treatment: There is no known cure or treatment for this disease.

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