Birth Defects
What are birth defects?
Birth defects are structural or functional abnormalities present at birth
that cause physical or mental disability. Some may be fatal.
Researchers have identified thousands of different birth defects. Currently,
birth defects are the leading cause of death for infants during the first year
of life.
What causes birth defects?
Birth defects have a variety of causes, such as:
Genetic problems caused when one or more genes doesn't work
properly or part of a gene is missing
Problems with chromosomes, such as having an extra chromosome or missing part
of a chromosome
Environmental factors that a woman is exposed to during
pregnancy, such as
rubella or German measles
while pregnant, or using drugs or
alcohol during pregnancy.
What are the different types of birth defects?
There are two main types of birth defects: structural and
functional/developmental.
Structural birth defects are related to a problem with body parts. Some
physical problems include cleft lip or cleft palate, heart
defects, such as missing or misshaped valves, and abnormal limbs, such as a club
foot. They also include neural tube defects, such as
spina bifida, problems that are related to
the growth and development of the brain and spinal cord.
Functional birth defects are related to a problem with how a body part or
body system works. These problems often lead to developmental disabilities and
can include things such as:
Nervous system or brain problems - such as learning disabilities,
mental retardation, behavioral disorders, speech or language difficulties,
convulsions, and movement trouble. Some examples of birth defects that affect
the nervous system include Autism, Down syndrome, Prader-Willi syndrome, and
Fragile X syndrome.
Sensory problems - such as blindness, cataracts and other visual
problems, and varying degrees of hearing loss including deafness
Metabolic disorders - involve a body process or chemical pathway or
reaction, such as conditions that limit the body's ability to get rid of waste
materials or harmful chemicals. Two common metabolic disorders are
phenylketonuria (PKU) and hypothyroidism.
Degenerative disorders--are conditions that might not be obvious at
birth, but cause one or more aspects of health to steadily get worse. For
example, X-linked adrenoleukodystrophy (X-ALD), which was the focus of the movie
Lorenzo's Oil, Rett syndrome, muscular dystrophy, and lysosomal disorders are
examples of degenerative disorders.
In some cases, birth defects are caused by a combination of factors. Some
recognized patterns of birth defects affect many parts or processes in the body,
leading to both structural and functional problems.
What are the treatments for birth defects?
Treatments for birth defects vary by disorder. Talk to your health care
provider for more information about treatments for birth defects.
SOURCE: National Institutes of Child
Health and Human
Development, National Institutes of
Health
Last Editorial Review: 5/14/2008
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