Genetic Disorders

Name Other Brief Symptoms Age of Treatment Type of Life Effects to

names description diagnos mutation expectan daily life
is cy

Cri du 5p The symptoms high-pitched cat- At birth No specific Deletion Normal Trouble eating
chat syndrome of cri du chat like cry, mental treatment is and talking
and cat cry syndrome vary retardation, available for
syndrome among delayed this syndrome.
individuals. development, Children born
The variability distinctive facial with this
of the clinical features, small head genetic
symptoms and size (microcephaly), condition will
developmental widely-spaced eyes most likely
delays may be (hypertelorism), require
related to the low birth weight ongoing
size of the and weak muscle support from a
deletion of the tone (hypotonia) in team made up
5p arm. infancy of the parents,
therapists, and
medical and
educational
professionals
to help the
child achieve
his or her
maximum
potential.

Cystic CF Cystic fibrosis very salty-tasting birth Gene therapy deletion Around Eat a lot but
fibrosis (CF) is the skin, a persistent 40 gain no weight
most common, cough and excessive
fatal genetic appetite but poor
disease in the weight gain.
United States.
 About 30,000
people in the
United States
have the
disease. CF
causes the
body to
produce thick,
sticky mucus
that clogs the
lungs, leads to
infection, and
blocks the
pancreas,
which stops
digestive
enzymes from
reaching the
intestine where
they are
required in
order to digest
food.

Crohn’s Inflammato Crohn's Abdominal pain, 20-30 There is Unknown Normal Lots of pain,
Disease ry bowel disease, an often in the lower currently no to me but it unexpected
disease idiopathic (of right area, cure for can diarrhea,
unknown Diarrhea, Rectal Crohn's sometim nausea,
cause), chronic bleeding, Weight disease. The es lead decreased
inflammatory loss, Arthritis, Skin treatment for to death appetite, and
disorder of the problems, Fever Crohn's most people
bowel, involves disease usually will have to
any region of involves have a surgery
the medical care
gastrointestina over a long
l tract from the period of time,
mouth to the with regular
anus. The visits to the
 swelling and doctor to
inflammation monitor the
can go deeply condition.
into the lining
Treatment
of the bowel.
includes:
This can be
drugs,
very painful
nutrition
and can cause
supplements
diarrhea,
and surgery,
abdominal
or a
pain, nausea
combination of
and decreased
these
appetite. The
treatments.
inflammatory
The goal of
process tends
treatment is to
to be eccentric
control the
and segmental,
swelling
often with skip
(inflammation)
areas (normal
, correct any
regions of
nutritional
bowel between
deficiencies,
inflamed
and relieve
areas).
symptoms
such as
abdominal
pain, diarrhea
and rectal
bleeding.
Down none Down Individuals with At birth  Physical insertion Normal They might
Syndro syndrome is a Down syndrome therapy can have to go to a
me chromosomal also have an help with these special school
condition increased risk for problems. or have special
related to having heart care
chromosome defects, digestive
21. It affects 1 problems such as
in 800 to 1 in gastroesophageal
1000 live born reflux or celiac
 infants. disease, and
hearing loss. Some
people who have
Down syndrome
have low activity of
the thyroid gland
(hypothyroidism) -
an organ in the
lower neck that
produces
hormones.

Fragile FMR1 Fragile X moderate or mild As a There is no Copy Normal Learning

X syndrome is intellectual child specific Number unless disorder
the most disability, treatment Variation
common form particular facial available for
of appearance, loose fragile X
inherited intell joints, behavioral syndrome.
ectual problems such as Supportive
disability in hand flapping or therapy for
males and is hand biting or children who
also a tantrums or autism, have fragile X
significant poor coordination syndrome
cause
of intellectual
disability in
females. It
affects about 1
in 4,000 males
and 1 in 8,000
females and
occurs in all
racial and
ethnic groups.
Hemop Hemophilia Hemophilia is Symptoms of 5 or 6 There is Unknown Most die Large
hilia A a bleeding hemophilia include currently no to me quick if amounts of
And disorder that prolonged oozing cure for they do blood on small
Hemophilia slows down the after injuries, tooth hemophilia. not get injuries
B blood clotting extractions or Treatment treatmen
process. People surgery; renewed depends on the t
who have bleeding after severity of
hemophilia initial bleeding has hemophilia.
often have stopped; easy or Treatment
longer bleeding spontaneous may involve
after an injury bruising; and slow injection
or surgery. prolonged bleeding. of a medicine
People who In both severe called
have severe hemophilia A and desmopressin
hemophilia severe hemophilia (DDAVP) by
have B, the most the doctor into
spontaneous frequent symptom one of the
bleeding into is spontaneous joint veins. DDAVP
the joints and bleeding. Other helps to
muscles. serious sites of release more
Hemophilia bleeding include the clotting factor
occurs more bowel, the brain to stop the
commonly in and soft tissues. bleeding.
males than in These types of Sometimes,
females. bleeding can lead to DDAVP is
throwing up blood given as a
or passing blood in medication
the stool, stroke, that can be
and sudden severe breathed in
pain in the joints or through the
limbs. Painful nose (nasal
bleeding into the spray).
soft tissues of the
arms and legs can
lead to nerve
damage.
Individuals who
have severe
hemophilia are
usually diagnosed
within the first year
of life. People who
have moderate
 hemophilia do not
usually have
spontaneous
bleeding, but they
do have longer
bleeding and oozing
after small injuries.
They are usually
diagnosed before
they reach five or
six years.
Individuals who
have mild
hemophilia do not
have spontaneous
bleeding. If they are
not treated they
may have longer
bleeding when they
have surgery, teeth
removed or major
injuries.
Individuals with
mild hemophilia
may not be
diagnosed until
later in life.
Genetic Disorders

Name Other Brief Symptoms Age of Treatment Type of Life Effects to

names description diagnos mutation expectan daily life
is cy

Huntin HD Huntington's This defect causes As a No cure Copy 20 years You might die
gton’s disease (HD) is the resulting child or Number after the at any
disease an inherited huntingtin protein later Variation symtoms moment and It
 neurological to be malformed, would be hard
illness causing prone to clumping to learn things
involuntary in the brain and
movements, causing the death of
severe nearby nerve cells.
emotional Cells of the basal
disturbance ganglia, a brain
and cognitive area responsible for
decline. In the coordinating
United States movement, and of
alone, about the cortex, which
30,000 people controls thought,
have HD. In perception and
addition, memory, are most
35,000 people often affected.
exhibit some
symptoms and
75,000 people
carry the
abnormal gene
that will cause
them to
develop the
disease. There
is no cure for
this fatal
disease.
Myoton none Myotonic People who have As There is Copy normal Hard or
ic dystrophy is an myotonic dystrophy early as currently no number painful to
dystrop inherited type have progressive birth cure or variation walk or move
hy of muscular muscle wasting and specific
dystrophy that weakness beginning treatment for
affects the in their 20's or 30's. myotonic
muscles and The muscle wasting dystrophy.
other body and weakness Ankle
systems. develop in their supports and
People who lower legs, hands, leg braces can
have myotonic neck and face. They help when
dystrophy have also have stiffness muscle
muscle wasting and tightness of weakness gets
and weakness their muscles worse. There
in their lower (called myotonia), are also
legs, hands, so they are slow to medications
neck and face relax certain that can lessen
that get worse muscles after using the myotonia.
over time. them. Not being Other
Signs and able to release their symptoms of
symptoms of grip on in a myotonic
myotonic handshake or a dystrophy
dystrophy doorknob is one such as the
usually develop example of this heart
when a person problem. problems, and
is in his or her In addition to eye problems
twenties or muscle weakness (cataracts) can
thirties. The and wasting, people also be
severity of who have myotonic treated.
myotonic dystrophy have
dystrophy clouding of the lens
varies widely in their eyes
among those (cataracts), and
who have it, irregularities in the
even among electrical control of
family their heartbeat
members. (cardiac conduction
defects).
Men who have
myotonic dystrophy
have changes in
their hormones that
can cause balding
and sometimes the
inability to father a
child (infertility).
Babies who are
born with signs and
symptoms of
myotonic dystrophy
have congenital
 myotonic
dystrophy. They
have weakness of
all their muscles,
breathing
problems, and
developmental
delays including
mental retardation.
Sometimes these
medical conditions
are so severe they
may cause death.
Osteoge OI Osteogenesis Osteogenesis Birth or There is unknown Depends Have to be in
nesis imperfecta imperfecta (OI) newbor currently no on how a wheel chair
Imperfe (OI) is a causes bones to be n cure for OI. severe and no rough
cta genetic fragile and easily Treatment physical play
disorder that broken and is also involves
causes a responsible for supportive
person's bones other health therapy to
to break easily, problems. decrease the
often from number of
little or no fractures and
apparent disabilities,
trauma. OI is help with
also called independent
"brittle bone living and
disease." OI maintain
varies in overall health.
severity from OI is best
person to managed by a
person, medical team
ranging from a including the
mild type to a child's own
severe type doctor, and
that causes genetic,
death before or orthopedic
shortly after and
birth. In rehabilitation
 addition to medicine.
having Supportive
fractures, therapy is
people with OI unique to each
also have teeth individual
problems depending on
(dentinogenesis the severity of
imperfecta), their condition
and hearing and their age.
loss when they Physical and
are adults. occupational
People who therapies to
have OI may help improve
also have their ability to
muscle move, to
weakness, prevent
loose joints fractures and
(joint laxity) to increase
and skeletal muscle
malformations. strength are
often useful.

Parkins Parkinson's Tremors, and Young Some Unknown Normal Harder to

on’s disease (PD) is stiffness in than 30 Medicine can to me unless move
Disease a neurological movement help severe
condition that complica
typically tions
causes tremor change
and/or stiffness that
in movement.
The condition
affects about 1
to 2 percent of
people over the
age of 60 years
and the chance
of developing
PD increases
as we age.
 Most people
affected with
PD are not
aware of any
relatives with
the condition
but in a
number of
families, there
is a family
history. When
three or more
people are
affected in a
family,
especially if
they are
diagnosed at
an early age
(under 50
years) we
suspect that
there may be a
gene making
this family
more likely to
develop the
condition.

Progeri Progeria is an Smaller in weight 1 or 2 No cure Unknown 13 They will be

a extremely rare and in size. to me old and feel
genetic disease old
of childhood
characterized
by dramatic,
premature
aging. The
condition,
which derives
 its name from
"geras," the
Greek word
for old age, is
estimated to
affect one in 4
million
newborns
worldwide.
The most
severe form of
the disease is
Hutchinson-
Gilford
progeria
syndrome,
recognizing the
efforts of Dr.
Jonathan
Hutchinson,
who first
described the
disease in 1886,
and Dr.
Hastings
Gilford who
did the same in
1904.

Color Color a group of See different colors depend Glasses or unknown normal See colors
Vision blindness, conditions that than hey truly are s lenses different
Deficien color vision affect the unless you get
cy defects, perception of glasses
defective color. 
color
vision,
 Genetic Disorders

Name Other Brief Symptoms Age of Treatment Type of Life Effects to

names description diagnos mutation expectan daily life
is cy

Sickle Sickle cell Sickle cell none New preventive substitutio Half live You might not
Cell disease is born or drug n beyond have as much
Anemia caused by a before treatment and 50 years oxygen
mutation in the bone marrow
hemoglobin- transplantatio
Beta gene n
found on
chromosome
11.
Hemoglobin
transports
oxygen from
the lungs to
other parts of
the body. Red
blood cells
with normal
hemoglobin
(hemoglobin-
A) are smooth
and round and
glide through
blood vessels.

Tay- TSD Tay-Sachs In children, the 2 years A much rarer deletion Death You slowly
Sachs disease (TSD) destructive process of age form of Tay- usually wither away
is a fatal begins in the fetus Sachs, Late- results at and become
genetic early in pregnancy. Onset Tay- age five paralyzed and
disorder, most However, a baby Sachs disease, then dead
commonly with Tay-Sachs affects adults
occurring in disease appears and causes
children, that normal until about neurological
results in six months of age and
progressive when its intellectual
destruction of development slows. impairment.
the nervous By about two years Only recently
system. Tay- of age, most identified, the
Sachs is caused children experience disease has not
by the absence recurrent seizures been
of a vital and diminishing extensively
enzyme called mental function. described. As
hexosaminidas The infant for the
e-A (Hex-A). gradually regresses, childhood
Without Hex- and is eventually form of Tay-
A, a fatty unable to crawl, Sachs, there is
substance, or turn over, sit or no cure.
lipid, called reach out. Treatment
GM2 Eventually, the involves
ganglioside child becomes managing the
accumulates blind, cognitively symptoms of
abnormally in impaired, the disease.
cells, especially paralyzed and non-
in the nerve responsive. By the
cells of the time a child with
brain. This Tay-Sachs is three
ongoing or four years old,
accumulation the nervous system
causes is so badly affected
progressive that death usually
damage to the results by age five.
cells.