BIRTH DEFECTS
CEREBRAL PALSY
The term cerebral palsy refers to any one of a
number of neurological disorders that appear in
infancy or early childhood and permanently affect
body movement and muscle coordination but
don’t worsen over time. Even though cerebral
palsy affects muscle movement, it isn’t caused
by problems in the muscles or nerves. It is
caused by abnormalities in parts of the brain that
control muscle movements.
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The majority of children with cerebral palsy are born
with it, although it may not be detected until months
or years later.
The early signs of cerebral palsy usually appear
before a child reaches 3 years of age. The most
common are a lack of muscle coordination, stiff or
tight muscles and exaggerated reflexes, walking with
one foot or leg dragging, and muscle tone that is
either too stiff or too floppy.
A small number of children have cerebral palsy as the
result of brain damage in the first few months or
years of life, brain infections such as bacterial
meningitis or viral encephalitis, or head injury from a
motor vehicle accident, a fall, or child abuse.
CYSTIC FIBROSIS
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Cystic Fibrosis is an inherited disease caused by
an altered gene. Cystic fibrosis is characterized
by the production of abnormally thick and sticky
mucus which most frequently obstructs the lungs
and pancreas. This lung obstruction makes
breathing difficult and leads to progressive
chronic and life-threatening lung infections.
Cystic fibrosis occurs most commonly among
whites. The median age of survival in 2006 was
36.9 years compared to 25 years in 1985, 14
years in 1969 and five years in 1955.
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Down syndrome (DS), also called
Trisomy 21, is a condition in which
extra genetic material causes delays
in the way a child develops, both
mentally and physically. It affects
about 1 in every 800 babies.
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In most cases of Down syndrome, a child gets
an extra chromosome 21 — for a total of 47
chromosomes instead of 46. Although no one
knows for sure why DS occurs and there's no
way to prevent the chromosomal error that
causes it, scientists do know that women age 35
and older have a significantly higher risk of
having a child with the condition.
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Kids with Down syndrome tend to
share certain physical features such
as a flat facial profile, an upward
slant to the eyes, small ears, and a
protruding tongue.
Down syndrome affects kids' ability
to learn in different ways, but most
have mild to moderate intellectual
impairment.
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Almost half of all children born with DS
will have a congenital heart defect.
Approximately half of all kids with DS also
have problems with hearing and vision.
Other medical conditions that may occur
more frequently in kids with DS include
thyroid problems, intestinal abnormalities,
seizure disorders, respiratory problems,
obesity, an increased susceptibility to
infection, and a higher risk of childhood
leukemia.
CLEFT LIP OR PALATE
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Oral-facial clefts are birth defects in which the
tissues of the mouth or lip don't form properly
during fetal development. In the United States,
clefts occur in 1 in 700 to 1,000 births, making it
one of the most common major birth defects.
Clefts occur more often in kids of Asian, Latino, or
Native American descent.
The good news is that both cleft lip and cleft
palate are treatable. Most kids born with these
can have reconstructive surgery within the first 12
to 18 months of life to correct the defect and
significantly improve facial appearance.
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The three common kinds of clefts are:
cleft lip without a cleft palate
cleft palate without a cleft lip
cleft lip and cleft palate together
Doctors don't know exactly why a baby
develops cleft lip or cleft palate, but
believe it may be a combination of
genetic (inherited) and environmental
factors (such as certain drugs, illnesses,
and the use of alcohol or tobacco while a
woman is pregnant).
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Thanks to medical advancements,
reconstructive surgery can repair
cleft lips and palates and, in severe
cases, plastic surgery can address
specific appearance-related
concerns.
MUSCULAR DYSTROPHY
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Muscular dystrophy (MD) refers
to a group of genetic, hereditary
muscle diseases that cause
progressive muscle weakness.
Muscular dystrophies are
characterized by progressive
skeletal muscle weakness, defects
in muscle proteins, and the death of
muscle cells and tissue.
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There is no known cure for
muscular dystrophy.
Physical therapy, Occupational
therapy, speech therapy and
orthopedic instruments (e.g.,
wheelchairs, standing frames) may
be helpful.
PKU or PHENYLKETONURIA
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Phenylketonuria (PKU) is an inherited
disorder that affects about 1 in every
10,000 people: they cannot break down
the protein from food in the usual way.
PKU leads to mental retardation if
untreated.
PKU is one of the few genetic diseases
that can be controlled by diet.
SICKLE-CELL ANEMIA
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Sickle cell anemia is an inherited
form of anemia — a condition in
which there aren't enough healthy
red blood cells to carry oxygen
throughout your body.
In people with sickle cell anemia, the
red blood cells become rigid and
sticky and are shaped like sickles or
crescent moons.
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These irregular-shaped blood cells die
prematurely, resulting in a chronic
shortage of red blood cells. Plus, they can
get stuck when traveling through small
blood vessels, which can slow or block
blood flow and oxygen to certain parts of
the body. This produces pain and can lead
to the serious complications of sickle cell
anemia.
There's no cure for most people with sickle
cell anemia. However, treatments can
relieve pain and prevent further problems
associated with sickle cell anemia.
SPINA BIFIDA
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Spina bifida is a neural tube defect
caused by the failure of the fetus's
spine to close properly during the
first month of pregnancy.
Infants born with SB sometimes
have an open lesion on their spine
where significant damage to the
nerves and spinal cord has
occurred.
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Although the spinal opening can be
surgically repaired shortly after
birth, the nerve damage is
permanent, resulting in varying
degrees of paralysis of the lower
limbs.
TAY-SACHS
DISEASE
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Tay-Sachs disease is a fatal genetic
lipid storage disorder in which
harmful quantities of a fatty
substance build up in tissues and
nerve cells in the brain.
Infants with Tay-Sachs disease
appear to develop normally for the
first few months of life.
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Then a relentless deterioration of mental and
physical abilities occurs. The child becomes
blind, deaf, and unable to swallow. Muscles
begin to atrophy and paralysis sets in. Other
neurological symptoms include dementia,
seizures, and an increased startle reflex to
noise.
The incidence of Tay-Sachs is particularly high
among people of Eastern European and
Askhenazi Jewish descent.
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Presently there is no treatment for
Tay-Sachs disease. Even with the
best of care, children with TaySachs disease usually die by age 4,
from recurring infection.
POLYDACTYLY &
SYNDACTYLY
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Polydactyly is the presence of more than
the normal number of fingers or toes. the
condition is usually inherited
Polydactyly can be corrected by surgical
removal of the extra digit or partial digit.
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Syndactyly is the webbing or fusing
together of two or more fingers or
toes.
Syndactyly can also be corrected
surgically, almost always with the
addition of a skin graft from the
groin.