Exploring Common Birth Defects
Cerebral palsy is not a specific birth defect but is a term to describe various medical
complications that can affect a baby's brain at birth. It is very difficult to actually make the diagnosis of
cerebral palsy at birth, as many times the symptoms do not present themselves until later.
There are certain birth defects that are more common than others they include: cerebral palsy, cleft
lip/palate, clubfoot, congenital hip dislocation, congenital hypothyroidism, cystic fibrosis (CF), down syndrome,
fetal alcohol syndrome (FAS), heart defects, muscular dystrophy (MS), neural tube defects (NTDs), phenylketonuria
(PKU), sickle cell anemia, and tay-sachs disease.
Cerebral palsy is not a specific birth defect but is a term to describe various medical complications that can
affect a baby's brain at birth.
It is very difficult to actually make the diagnosis of cerebral palsy at birth, as many times the symptoms do
not present themselves until later. The diagnosis usually comes about when it is used to describe conditions that
affect control of movement that can be attributed to some kind of brain trauma experienced at birth.
The cause of cerebral palsy is usually unknown but may include rubella, Rh disease, prematurity, or brain damage
during the last trimester of pregnancy or at birth. Cerebral palsy can also occur after birth due to meningitis or
Cleft lip/palate can happen when the tissues of the mouth, lip and palate do not form properly during fetal
development. An opening between the upper lip and the nose is known as cleft lip and an opening between the roof of
the mouth and the nasal cavity is known as cleft palate. Both of these defects can be surgically repaired after
Clubfoot is a structural defect of the ankle blood vessels and foot bones, joints and muscles that may affect
one foot or both feet. There is usually a limited range of motion and the affected foot usually points down and
The cause is unknown and treatment is a cast that is applied immediately after birth; which works 95% of the
time to correct the defect. If the original casting does work, then surgery and recasting is then done in hopes of
correcting the defect.
Congenital hip dislocation is when the upper end of the thighbone fails to sit inside the socket of the pelvis
in the proper fashion. This can affect one or both hips. This defect tends to run in families and happens more
often to girls. The baby is placed in a soft sling for 6 to 9 months to correct the defect. If it goes undetected
at birth, surgery may be necessary to correct it.
Congenital hypothyroidism is when the baby's thyroid gland is absent or is underdeveloped at birth. The baby is
unable to produce enough thyroid hormone which is what supports normal growth and brain development.
The baby will experience developmental delays and permanent mental retardation is the condition is not
recognized and treated with oral thyroid hormone within the first few weeks of life. All newborns in the United
States is now screened for this condition with a blood test done at birth.
Folic Acid Birth DefectsThe advise her caregiver can give her just may save her some grief.
As her pregnancy increases her joint become more laxity and there is a higher risk for strains and sprains.
Cystic fibrosis (CF) is a respiratory and digestive system disease. Symptoms are: trouble breathing, trouble
digesting food, pneumonia, bulky stools and poor weight gain. This is a genetic defect. Treatment includes therapy
and proper nutrition.
Down syndrome is actually a group of abnormalities, which is genetic in origin. Babies with down syndrome have
an extra (third) copy of chromosome number 21 in their cells. Mental retardation, distinctive facial and other
physical features are characteristic of those with this syndrome.
There can be a wide variety of severity. There may be other medical issues such as heart defects experienced by
those with this disorder, which may be treated with medications or surgery.
Fetal alcohol syndrome (FAS) is characterized by slow growth, mental retardation, abnormal facial features and
central nervous system problems. There is no cure or treatment; moms avoiding alcohol as soon as they realize
that they are pregnant can prevent it.
Muscular dystrophy (MS) is a term used to describe 40 different muscular diseases that involve progressive
weakness and degeneration of muscle movement. This is a genetic disease and there is no cure. Treatment includes
physical and respiratory therapy, and medications.
Neural tube defects (NTDs) include Spina bifida and Anencephaly and develop during the first month of pregnancy
as a structural birth defect involving the brain and spinal cord. Many babies are stillborn or die soon after
MTDs are multifactorial defects and may often be prevented by mothers taking adequate amounts of folic acid
before and during pregnancy.
Phenylketonuria (PKU) presents with developmental delays, mental retardation and is a genetic disease because
the body does not process protein correctly. There is a blood screening test done shortly after birth that detects
PKU. If the child is treated promptly with a special diet mental retardation can be avoided.
Sickle cell anemia is a genetic disorder involving abnormal shape of the blood cells and results in periodic
episodes of pain and chronic anemia (low blood count). Treatment includes antibiotics, blood transfusions and bone
marrow transplants. Most U.S. states have a screening blood test for newborns to detect this defect.
Tay-sachs disease is a central nervous system disorder that results in blindness, dementia, paralysis, seizures,
deafness and death. Symptoms develop during the first few months of life.