Name________________________________Per____ Date________________
Birth Defect Review
Birth Defect
Resource Person
Description/Prevention/Cure
or Treatment?
Achondroplasia –
“Dwarfism”
Auto Dom. Genetic disorder
of bone growth. Arms, legs
short; head large; forehead
prominent; normal
intelligence. No prevention.
Albinism
Lack of pigment in skin, hair,
eyes – no melanin (helps you
tan). Vulnerable to sun. Varied
severity. Genetic – no
prevention.
Autosomal Recessive
Anencephaly
Neural tube doesn’t close during
fetal dev’t. 23-26 day of preg. Add
folic acid (vit B9). Blind, deaf,
unconscious, unable to feel.
Brain often not full dev’d.
Breathe, respond but few live
beyond 10 days.
Arnold-Chiari
Malformation
Fluid around brain & spine
malforms. Upper limb weakness, sleep apnea, common
w/spina bifida. Autosomal
recessive. Harmful substances – drugs, alcohol.
Decompression surgery.
Autism/Asbergers
Dev’tal disorder that affects the
way a child sees and interacts
with the world – lg range of
severity. Abnormal comm’n,
soc’l skills and reasoning. Males
4x+ females. Appear normal to
30mos. Just recently found gene.
Brain damage. Before, during,
after birth. Injury, faulty growth,
disease. Severe crippling and
mental retardation. Lack of
muscle control –stiffen.
Autosomal Recessive, injury,
nutrition, smoking, harmful
substances.
Cerebral Palsy
Chromosomal
Abnormalities
Includes all the birth defects
caused by imperfections or
damage to chromosomes.
Cleft Lip and Cleft
Palate
Genetic, environmental –
drugs, smoking, alcohol.
Abnormalities of lip and
mouth. 1/700. Early in
pregnancy when sides of lip
and roof of mouth do not fuse.
Folic Acid helps.
Clubfoot
Foot turned inward. Theory
– during 1st trimester.
Genetic, infection, drugs,
disease, smoking. Position
in uterus. Higher occurrence in males.
Color Blindness
(red-green)
X-linked recessive, eye or
chemical damage. Can’t distinguish shades of red/green.
Can be advantage: nite vision,
camoflauge,
Congenital Adrenal
Hyperplasia
Genetic defect with adrenal
glands. Difficult to determine
sex of child. Does not
produce corticosteroids which
are vital for body to function.
Treatment: steroids. auto
recessive.
Congenital Heart
Defects (general
category)
Multifactorial. Heart devs early in
preg. Abnormal heart structure
or function caused by abnormal
heart dev’t before birth. Alcohol,
cocaine, acne med, anti-seizure
meds, others. Rubella 1st
trimester. More deaths in first
year than any other disease. Most
common of major birth defects.
Craniosynostosis
1 suture in skull closes early,
skull expands in direction of
open sutures, deforms head.
Increased pressure on brain.
Psychological damage, plastic
surgery. Autosomal dominant.
Cystic Fibrosis
Body produces thick, sticky
mucus that clogs lungs =
infections. Autosomal
recessive. Fatal often by
20’s.
Down Syndrome
Extra 21st chromosome.
Specific physical
characteristics, mental
retardation. Born with it.
Older mothers.
Fetal Alcohol
Spectrum Disorder
Fragile X Syndrome
Preventable. Brain damage. Low
birth wt, shorter, smaller heads, facial
features deformed, abnormal
joints/limbs, poor coordination,
learning dis’s, short memories,
mental health problems. Leading
cause of brain damage. Does more
damage than any drugs.
Recessive – carrier mother (male can
be carrier also but will only pass on
to daughters), long hands, finger
bones, enlarged ears, behav/emot
probs, more males/more severe,
mental retardation, hyper, anxious,
speech probs,
Gaucher Disease
Autosomal recessive. Fatty
deposits build up in organs
and bones. Inherited. Enzyme
deficiency that breaks down
fat molecules. Life threatening
– 3 types/life spans. Can
affect brain. More boys.
Genital and Urinary
Tract Defects (ex:
bladder extrophy)
Multifactorial – fluke.
malformation of bladder,
often turned inside out, on
outside of body. Theory 4-5
wks error in halves joining.
Glaucoma
Causes blindness. Damage to
optic nerve. Prevention: no
smoking, looking at uv rays,
unhealthy eating, not using
eye safety. Multifactorial.
Hashimoto’s
Syndrome
Inflammation of thyroid gland. Cause
by adrenal insufficiency/type I
diabetes. Not preventable.
Chronic autoimmune thyroiditis.
Abnormal blood antibodies and white
blood cells mistakenly attack and
damage healthy thyroid cells.
Multifactorial.
Hearing Loss
Multifactorial – ear damage,
ear infection, swimmer’s
ear, fluid in middle ear, birth
injury, head trauma, etc.
Genetic?
Hemophilia
Blood doesn’t clot.
Recessive x-linked. Inject
daily with clotting
substance. Bruise easily.
Hypotonia
Multifactorial. Low muscle tone.
Floppy. Muscles do not tighten
and retract. Trouble holding head
up. Trauma, envir. factors,
genetic, central nervous system
disorders. Posture, lethargy,
some treatments help.
Jaundice
Multifactorial. Metabolic. Yellow color
in skin, mucous membranes, eyes.
From bilirubin, by product of old red
blood cells dying too soon. Blood
incompatibilities, diseases, genetic
syndromes, hepatitis, cirrhosis, bile
duct blockage, liver diseases,
infections, medications.
Prematurity, difficult delivery, other.
Klippel-Fell
Syndrome
Multifactorial, dominant or
recessive – short neck
vertebrae fused, low hairline.
Division of cervical vertebrae.
Surgery to relieve cranial
pressure. Causes scoliosis.
Early fetal dev’t.
Marfan Syndrome
Autosomal dominant. Dormant –
amt of proteins. Connective
tissue (holds body together –
framework for growth & dev’t) –
doesn’t do it’s job. Grow larger,
long slender limbs, fingers.
Scoliosis. Lincoln, Osama BL.
Muscular Dystrophy
x-linked recessive. Weak and
Degenerative muscles,
affecting voluntary muscles,
weakens. Insufficient
production of dystrophin (a
protein that keeps muscle
cells intact). No prevention.
Neurofibromatoses
Tumors grown on skin can
affect bones. 50% genetic,
50% mutation.
Oseogenesis
Imperfecta
Dominant or spontaneous
mutation - “Brittle Bone
Disorder” caused by less or
poor quality collagen. Metal
rods for strength.
“Rodding”.
PKU
Auto rec. Inherited (both parents
have gene) disorder of body
chemistry, causes mental
retardation. Treated early, can
have normal intelligence. A
deficient enzyme. Chrom. 12. Diet
low in amino acids.
Progeria
Auto. Dom. Genetic. Rapid
aging. Look normal at birth.
Narrow faces, old look. Live
to teens, rare to 30’s. Death
due to heart attack or stroke
often.
Rh Disease
Hemolytic (blood) disease causing
destruction of fetal red blood cells.
Brain damage, heart failure, most can
die. Prev: women tested for Rh type.
Incompatibility between mother and
baby. Mother’s antibodies fight
baby’s blood. Transfusion shortly
after birth.
Sickle Cell Disease
Recessive. Genetic. blood cells
contain mostly Hemoglobin S
instead of Hemoglobin A, become
stiff and distorted in shape.
Lesson blood flow to an area of
the body, causing tissue damage.
Antibiotics, surgery. Cell
transplants.Cells don’t last as
long as regular blood cells (only
~20 days).
Spina Bifida
not on test
Tay-Sachs Disease
not on test
Thalassemia
not on test
Turner Syndrome
not on test
Genetic, nutrition and environment
(Mf). Spinal column doesn’t close to
form a strong spine when fetus is
dev’g. No prev: Growth of spine
occurs (28th day) before woman
discovers she is pregnant. Lack of
folic acid. Multifactorial. Whole
grains, dried beans, fruit.
Both parents must carry gene. Fatal
inherited disease of central nervous
system. Harmful amounts of fatty
substances build up in tissues and
nerve cells in the brain. Mental physical ability deteriorates a few mo’s
after birth, then blind, deaf, un-able to
swallow, Usually die by age of 4.
Auto rec. Notice 3-5 mos. Dimentia,
startle, lg head, red spots in eyes.
X-linked recessive. Red blood cell
deficiency. Healthy at birth, then
pale, listless, fussy, poor appetite,
slow growth, jaundice. Heart failure
and infection can lead to death. Mild
for first 2 decades of life.
Transfusions help. Pushes bones
out, distorts body. Hem can’t carry
oxygen to body.
Dominant? Damaged x chromosome
(only 1 x chrom). Female sexual
characteristics to be
underdeveloped. Short stature,
swelling hands/feet, broad chest, low
hairline and ears, sterility, sm lower
jaw, turned-out elbows, webbed neck,
soft, upturned finger nails. No cure,
estrogen replacement therapy,
growth hormones help.
Werner’s Syndrome
not on test
Noonan Syndrome
not on test
Auto. Rec. Premature, accellerated aging disease. Werner
protein, WRN gene. Normal til
puberty, no senility. Do not live
past late 40’s, early 50’s. Die of
cancer of heart disease (older age
diseases), lack of teen growth,
high voice, birdlike, thin skin,
arms, legs shorter, diminished
fertility, loss hair, cataracts, diabetes, early periods for girls,
early menopause.
Hidden. Auto. Dom. Congenital
heart malformation. Short,
learning problems, chest
indented, impair blood clotting,
characteristic facial features,
signs of heart disease, wide set
eyes, slanted lids, diamond shape
eyebrows, ears lowset and
backward. 1/3 mild retardation.
Not always id’d early because
range and severity varies.
Birth Defect Report Notesheet/Review 11 3
09