Definition: colon cancer forms when uncontrolled cell
growth starts with cells in the large intestine.
It is inherited within family members.
Symptoms: diarrhea, Weakness or fatigue, Unexplained
weight loss , Rectal bleeding or blood in the stool and Pain,
cramps, or gas in the abdomen.
Diagnosis: physical exam and conducts a colonoscopy or a
barium enema x-ray (lower G series).
Treatment: surgery, chemotherapy, and radiation therapy.
The prevention: eat healthy and doing exercising.
Definition: Hypothyroidism is a condition in which the thyroid gland
does not make enough thyroid hormone.
Causes: The thyroid makes hormones that control the way every cell
in the body uses energy. This process is called metabolism.
Hypothyroidism is more common in women and people over age 50.
Symptoms: Weakness, Heavier and irregular menstrual periods,
Decreased taste and smell, Thickening of the skin and Slow speech.
Diagnosis: a physical exam, Blood tests.
Treatment: - replacing the thyroid hormone that you are lacking, -
Definition chromosomal condition that affects development in
Symptoms: The most common feature of Turner syndrome is
short stature, which becomes evident by about age 5.
Most cases of Turner syndrome are not inherited.
How common it: This condition occurs in about 1 in 2,500
newborn girls worldwide.
Genetic changes: Turner syndrome is related to the X
chromosome, which is one of the two sex chromosomes.
Diagnosis: diagnosed by amniocentesis or chorionic villous
Treatment: Growth hormone therapy, Sex hormone replacement
therapy, Consultations, and Diet.
Definition: Down syndrome is a chromosome associated with
Symptoms: facial appearance, and weak muscle tone (hypotonia) in
Most cases of Down syndrome are not inherited.
How common it: Down syndrome occurs in about 1 in 830 newborns.
Genetic changes: Most cases of Down syndrome result from trisomy
21, which means each cell in the body has three copies of chromosome
21 instead of the usual two copies.
Diagnosis: Initially the diagnosis is based on physical characteristics
that are commonly seen in babies with Down syndrome.
Definition: Pachyonychia congenita is a condition that primarily affects
the nails and skin.
Symptoms: Thick nails , blisters and calluses on the palms of the hands, a
white growth on the tongue, and a variety of cysts.
Most cases of Turner syndrome are not inherited.
How common it: There are probably several thousand people worldwide
with this disorder.
Genetic changes: it is occur when a mutation occur on keratin gene which
located on chromosome 12 and another on chromosome 17.
Diagnosis: PC is often misdiagnosed
Treatment: There is no cure for PC, and drug therapies are
Definition: Smith-Magenis syndrome is a developmental disorder that
affects many parts of the body.
Symptoms: mild to moderate intellectual disability, delayed speech and
language skills, distinctive facial features, sleep disturbances, and
Smith-Magenis syndrome is typically not inherited.
How common it: Smith-Magenis syndrome affects at least 1 in 25,000
genetic changes: Given that SLOS is an autosomal recessive disorder,
mutations in DHCR7 on both copies of chromosome 11 are necessary to
have the disorder.
Diagnosis: SLOS is diagnosed upon finding an elevated 7DHC:total sterol
ratio in fetal tissues, or increased levels of 7DHC in amniotic fluid.
Sickle cell disease
Definition: Sickle cell disease is a group of disorders that affects
hemoglobin. People with this disorder have atypical hemoglobin
molecules called hemoglobin S, which can distort red blood cells into a
sickle, or crescent, shape.
This condition is inherited in an autosomal recessive pattern.
How common is it: Sickle cell disease affects millions of people
symptoms: symptoms of sickle cell disease usually begin in early
childhood, low number of red blood cells (anemia), repeated infections,
and periodic episodes of pain.
Causes: When red blood cells sickle, they break down prematurely,
which can lead to anemia.
Diagnosis: by blood test (HbSS).
Treatment: Children born with sickle-cell disease will undergo
close observation by the pediatrician and will require management
by a hematologist to assure they remain healthy.
Severe combined immunodeficiency
Definition SCID is a group of inherited disorders that cause severe
abnormalities of the immune system. These disorders lead to reduced or
malfunctioning T- and B-lymphocytes, the specialized white blood cells
made in the bone marrow and the thymus gland to fight infection.
How common is it :It is affect at least 1 in 100,000 births.
Symptoms: Infants with SCID often suffer from recurrent, severe
Genetic changes: Most cases of SCID are due to An autosomal recessive
mutations in the gene encoding the common gamma chain (γc), a
protein that is shared by the receptors for interleukins IL-2, IL-4, IL-7,
IL-9, IL-15 and IL-21.
• The most common type is caused by a problem in a gene found on the X
chromosome and affects only males. Females may be carriers of the
Diagnosis: genetic counseling and early blood testing
Treatment: bone marrow transplantation.
Definition: it is an autosomal recessive disorder that increases the levels of a
substance called phenylalanine in the blood. Phenylalanine is a building block of
proteins (an amino acid) that is obtained through the diet. It is found in all proteins
and in some artificial sweeteners.
How common it : In the United States, PKU occurs in 1 in 10,000 to 15,000
Symptoms: Babies born with PKU usually have no symptoms at first. But if the
disease is left untreated, babies experience severe brain damage.
Genetic changes: PKU is caused by a mutation in a gene on chromosome 12. The
gene codes for a protein called PAH an enzyme in the liver.
diagnosis: A small blood sample is taken from the baby's heel or arm and checked
in a laboratory for high levels of phenylalanine.
Treatment: People who have PKU must eat a protein-free diet, because nearly all
proteins contain phenylalanine. Infants are given a special formula without
phenylalanine. Older children and adults have to avoid protein-rich foods such as
meat, eggs, cheese, and nuts. They must also avoid artificial sweeteners with a
spertame, which contains phenylalanine.
Neurofibromatosis type 1
Definition: Neurofibromatosis type 1 is a condition characterized by changes
in skin coloring (pigmentation) and the growth of tumors along nerves in the skin,
brain, and other parts of the body.
Symptoms: scoliosis (curvature of the spine), learning disabilities, vision
disorders, and epilepsy.
Causes: NF-1 is caused by a mutation of a gene on the long arm of
chromosome 17 which encodes a protein known as neurofibromin which
plays a role in cell signaling.
Inheritance: NF-1 is inherited in an autosomal dominant fashion,
although it can also arise due to spontaneous mutation.
Diagnosis: Prenatal testing, Post-natal testing, and Radiologic features.
Treatment: There is no cure or treatment for NF1, but surgery can
remove tumors and correct malformed bones
maple syrup urine disease
Definition: MSUD is a potentially deadly disorder that affects the way the
body breaks down three amino acids, leucine, isoleucine, and valine.
Inheritance: MSUD is inherited in an autosomal recessive pattern..
Genetic changes: The most common defect is caused by a mutation in a
gene on chromosome 19 that encodes the alpha subunit of the
BCKD complex (BCKDHA).
Symptoms: A baby who has the disorder may appear normal at birth. But
within three to four days, the symptoms appear. These may include: loss of
appetite, fussiness, and sweet-smelling urine.
Diagnosis: In some states, all babies are screened for MSUD within 24 hours
after birth. A blood sample taken from the baby's heel is analyzed for high
Treatment: Treatment involved dietary restriction of the amino acids leucine,
isoleucine, and valine.
How common it: MSUD is an extremely rare disorder; only 1 in 180,000
babies is born with MSUD.
Definition: Huntington's disease is an inherited disease that causes the
progressive breakdown (degeneration) of nerve cells in the brain.
Inheritance: Huntington's disease is inherited in an autosomal dominant
Causes: he disease is caused by an autosomal dominant mutation in either
of an individual's two copies of a gene called Huntingtin
Symptoms: chorea, or slowed saccadic eye movements, abnormal
How common it: More than 15,000 Americans have HD. At least 150,000
others have a 50 percent risk of developing the disease
Diagnosis: Medical diagnosis, and Genetic counseling
Treatment: There is no cure for HD, but there are treatments available to
reduce the severity of some of its symptoms. For many of these treatments,
comprehensive clinical trials to confirm their effectiveness in treating
symptoms of HD specifically are incomplete
Adenosine deaminase (ADA)
Definition: Adenosine deaminase (ADA) deficiency is an inherited disorder
that damages the immune system and causes severe combined
Inheritance: ADA deficiency is an autosomal recessive disorder.
Symptoms: pneumonia, chronic diarrhea, and widespread skin rashes.
Causes: Some mutations in the gene for adenosine deaminase cause it not
to be expressed.
Diagnosis: Doctors can identify ADA deficiency during the mother's
pregnancy (1) by taking a tiny sample of tissue from the amniotic sac where
the baby develops, or (2) by looking at enzyme levels in a fetal blood
sample taken from the umbilical cord. After the child is born, doctors can
test a sample of his or her blood to see if it contains ADA.
Treatment: There are no real cures for ADA deficiency. but doctors have
tried to restore ADA levels and improve immune system function with a
variety of treatments: Bone marrow transplantation , Transfusions of red
blood cells , and Gene therapy .
alpha-1 antitrypsin deficiency
Definition: Alpha-1 antitrypsin deficiency is an inherited disorder that
may cause lung disease and liver disease.
Symptoms: shortness of breath, wheezing, weight loss, and recurring
How common it: This disorder affects about 1 in 1,500 to 3,500
individuals with European ancestry. It is uncommon in people of Asian
Genetic changes: Serpin peptidase inhibitor, clade A, member 1
(SERPINA1) is a gene that translates the protein Alpha 1-antitrypsin.
SERPINA 1 has been localized to chromosome 14q32.
Diagnosis: Computed tomography of the lung showing emphysema and
bullae in the lower lung lobes of a subject with type ZZ alpha-1-antitrypsin
Treatment: lung-affected A1AD patients may receive intravenous
infusions of alpha-1 antitrypsin, derived from donated human plasma
Called (augmentation therapy ), liver transplantation for liver-affected
Definition: Williams syndrome is a rare genetic disorder that affects a
child's growth, physical appearance, and cognitive development.
Genetic changes: People who have Williams syndrome are missing
genetic material from chromosome 7, including the gene elastin.
Symptoms: mental retardation, heart defects, unusual facial features ,
low birth weight, low muscle tone, and kidney abnormalities.
Inheritance: Williams syndrome is considered an autosomal
dominant condition, most cases are not inherited.
How common is it: One out of every 10,000 babies is born with
Diagnosis: The diagnosis of it doing by using a special technique
called FISH (fluorescent in situ hybridization).
Treatment: There is no cure for Williams syndrome. Patients must be
continually monitored and treated for symptoms throughout their
Causes: Albinism is caused by a defect in one of several genes that
produce or distribute melanin (natural pigment). The defect may
result in the absence of melanin production, or a reduced amount of
melanin production. Albinism is inherited and requires the defective
gene to be passed down by both parents.
How common it: one in every 17,000 people in the United States
has some type of albinism.
Symptoms: an absence of color in the hair, skin, or eyes, lighter than
normal coloring of the hair, skin, or eyes, and patches of skin that
have an absence of color
Diagnosis: genetic testes and the main test for albinism is simply an
Treatment: There is no cure for albinism. Treatments and aids can
help the symptoms and reduce the risk of damage to the skin and eyes.
Definition : Cystic fibrosis is a genetic disorder that affects the
respiratory and digestive systems.
Symptoms: coughing or wheezing, respiratory illnesses (such as
pneumonia or bronchitis), weight loss, salty-tasting skin, and greasy
Genetic changes: it is caused by changes in a pair of genes.
Everyone has two copies of the cystic fibrosis gene, but a person has
cystic fibrosis only if both copies of the cystic fibrosis gene have a
Inheritance: Cystic fibrosis is a recessive disorder.
Diagnosis: doctors use a sweat test to measure the amount of salt
(sodium chloride) in a person's sweat.
Treatment: Chest physical therapy, Inhaled antibiotics , and Gene
How common it is: About 2,500 babies are born with cystic fibrosis
in the U.S. each year.
Tay –sachs diseases
Definition: Tay-Sachs disease (Hexosaminidase A deficiency) is a
progressive fatal genetic condition that affects the nerve cells in the brain
Causes: All people have two copies of the Tay-Sachs gene (HEXA). TaySachs occurs when neither of a person’s HEXA genes is working properly
because of a mutation (harmful change).
Inheritance: is a rare autosomal recessive genetic disorder.
Symptoms: muscle weakness, low muscle tone, an increased startle
response and sudden contractions of large muscles.
Diagnosis: A blood test .
Treatment: there is no cure for Tay-Sachs disease itself. Treatment targets
controlling some of the symptoms – such as providing anticonvulsants to
control seizures and proper nutrition and hydration and other comfort
The HEXA gene is located on the long (q) arm of
human chromosome 15, between positions 23
Definition: Kartagener syndrome, a type of primary ciliary dyskinesia, is
an inherited disorder of special cells called cilia.
Causes: In primary ciliary dyskinesia, the cilia are defective and don't
work properly. This means that mucus and bacteria in the lungs can't be
expelled, and as a result, frequent lung infections (such as pneumonia)
How common it: Kartagener syndrome is estimated to occur in 1 per
32,000 live births, and affects both males and females.
Inheritance: it is inherited in an autosomal dominant fashion.
Symptoms: Chronic sinus infection, Frequent lung infections, such as
pneumonia and bronchitis, Bronchiectasis- lung damage from frequent
infections, Frequent ear infections.
Diagnosis: Chest x-ray or computed tomography (CT) scan
Treatment: Antibiotics can relieve sinusitis, and inhaled medications and
respiratory therapy can help if chronic lung disease develops.