Transcript Genetic Disorders

Genetic Disorders
Problem Pregnancies
Cleft lip/pallet
Anyone can have
it. More common
in some races
Appears at birth
Birth defect
Roof of mouth
(palate) not joined.
Treated with
surgeries.
Clubfoot
Anyone can have it
Present at birth
Many reasons for
it.
Foot and ankle
twisted making it
impossible to walk.
Treated with
surgery and shoes.
Color blindness
Sex Linked--Males
Present at birth
Inability to
distinguish certain
colors.
No cure—learn to
accommodate
Cystic Fibrosis
Recessive genetic
Usually present at
birth—can show up
later
Lack an enzyme so
mucous builds up
especially in lungs and
digestion.
Treated with drugs,
and pounding on back.
Diabetes
Anyone can get it
Occurs at birth or later
Many factors—incl.
genetics and
overweight
Abnormal metabolism
of sugar & insulin
Treated with insulin
and diet
Down Syndrome
More common to
young or older parents
or genetic tendency
Present at birth
21st Chromosome
error
Varies from mild to
severe
Surgery for heart
defect. Help as
needed
Hemophilia
Sex linked—males
Present at birth
Genetic
Absence of clotting
factor
Treated with
transfusions and
avoid injury
Huntington’s disease (Chorea)
Genetic
Shows up in middle
age.
Deterioration of
body and brain
leading to death
No cure
Hydrocephalus
Anyone can get it
Present at birth or
acquired later
Many factors cause it
Fluid (water) builds up
on brain causing brain
damage
Surgery to put in shunt
Marfan Syndrome
Genetic—very rare
Present at birth
Heart malformed,
hearing loss, long
and bony limbs
Treated with heart
surgery, medicine,
therapy
Muscular Dystrophy
X-linked genetic
Present at birth or
later in life
Weakening and
wasting away of
muscles.
Sometimes death
No cure
Sickle Cell Anemia
Anyone can get it—
more common in
blacks
Present at birth
Genetic recessive
Abnormal blood
cells—misshaped and
unable to carry oxygen
Treated with
transfusions
Tay-Sachs Disease
More common in Jews
(ethnicity, not religion)
Diagnosed by six
months—dies around
age 3 to 5
Genetic—recessive
Inability to break down
fatty deposits in the
brain. Nervous
system shuts down.
No cure
Cerebral Palsy
Brain malformed,
injured at birth, or
damaged later in life
Not inherited
Ranges from super
intelligent to severely
retarded
Affects brain’s ability
to control muscles
Treat the symptoms
Thalassemia
Genetic—recessive
More common in
Greeks and Italians
Present at birth
Abnormal red
blood cells, not
enough red blood
cells.
Treated with blood
transfusions
Toxoplasmosis
The earlier in pregnancy the
mother is infected, the lower is
the risk of an infection of the
fetus, but the severer is the
disease.
The later in pregnancy the
mother is infected, the higher
is the possibility of fetal
infection, and the disease is
less severe
Parasitic infection from cat
fecal matter or
undercooked/raw meat
Infected children have
seizures, hearing loss,
jaundice, blindness, mental
retardation
Prevent by cooking meat,
not being around cats
Spina Bifida
Anyone can get it
Present at birth
Many factors cause
it—current research
links it to Folic Acid
deficiency in mother
Can be slight cyst on
spine to open spine—
legs are paralyzed,
poor bladder control
Treated with surgery
and therapy