5 Common Birth Defects and their Symptoms

A birth defect is a problem occurring in the baby developing in the womb. They can be minor to severe and may affect the appearance, organ function and physical and mental development. Birth defects are the leading cause of infant death and disability.

Birth defects can occur due to:

  • Genetics
  • Lifestyle choices
  • Certain medications and chemicals
  • Infections during pregnancy
  • Or a combination of the above factors

5 Common Birth Defects

Congenital Heart Defect

Congenital heart defects are the most common birth defect and account for nearly one-third of all birth defects.(1) It is a leading cause of infant mortality.

It has a variety of causes including genetic abnormalities. Some of the heart defects are so mild that they are not even visible. The condition is detected when a doctor discovers an abnormal heart sound called murmur during a routine examination.

Severe heart defects are outwardly visible and can lead to congestive heart failure if left untreated as the heart become incapable of pumping enough blood to lungs or other parts of the body.

Symptoms: The symptoms of congenital heart defect are:

  • Rapid heartbeat
  • Pale and bluish skin
  • Breathing difficulties
  • Feeding problems
  • Swelling in legs, abdomen, and above eye

Mostly the heart defects are corrected or improved through surgeries.

Clubfoot

Clubfoot is another common heart defect with a prevalence of 1 in 1000 live births affecting boys twice as often as girls.(2)

Though the exact cause is not known it is thought to be a result of genetic and environmental factors.

Symptoms: The symptoms can be mild or severe. Mild clubfoot does not affect the child much until the baby begins to stand or walk.

The treatment starts soon after the diagnosis and involves gently forcing the foot to correct position by performing special exercises. The process can take from a few months to several years.

Cleft Lip or Palate

Cleft lip and cleft palate are the most common congenital malformation of head and neck and the studies show the prevalence of cleft lip more in men and cleft palate more in females.(3)

Maternal hormone disorders, psychiatric medications, cigarette smoking, maternal obesity, hereditary factors are considered the causative factors.

Symptoms: The cleft can be mild and severe and the child affected with this condition might need a speech pathologist. A middle ear infection is common in children with this condition which affects language development. The child might also face a problem with feeding.

The surgical treatment of cleft lip should be done by 3 months of age.

Cleft palate repair is usually done later between 6- 12 months to allow some normal growth of child’s face. It restores the partition between the nose and the mouth.

Spina Bifida

Spina bifida is caused due to malformation of the neural tube (a structure which develops into the brain and spine), which prevents the backbone from fusing completely during the development of the fetus.

In some cases, it is detected through tests advised to the mother during pregnancy. If the baby is suspected with spina bifida a cesarean section is performed.

Symptoms: This condition ranges in severity from being harmless to causing leg paralysis and the problem with controlling bladder and bowel movements.

The treatment involves the operation of the baby within 48 hours of delivery.

Down Syndrome

According to the world health organization, the incidence of Down syndrome is between, 1 in 1000 to 1 in 1100 live births worldwide.(4)

Symptoms: A child with Down syndrome generally has characteristic physical features including slanted eyes, small ears, small mouth, and larger tongue. The nasal bridge is flattened and the hands are small with shorter fingers. There is some degree of mental retardation noticed in those with Down syndrome.

Some children with down syndrome learn walking, talking and being toilet trained on time as normal children while a few observe a delay in them.

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