Inheritance through

DOMINANT genes

Hereditary spherocytosis is a condition that affects red blood cells.

People with this condition typically experience a shortage of red blood
cells (anemia), yellowing of the eyes and skin (jaundice), and an
enlarged spleen (splenomegaly).
1.)

Achondroplasia is a bone growth disorder that causes

disproportionate dwarfism. Dwarfism is defined as a condition of
short stature as an adult. People with achondroplasia are short in
stature with a normal sized torso and short limbs. Its the most
common type of disproportionate dwarfism.
2.)

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. The
signs and symptoms of this condition vary widely among affected
people.
3.)

Beginning in early childhood, almost all people with

neurofibromatosis type 1 have multiple caf-au-lait spots, which are
flat patches on the skin that are darker than the surrounding area.
These spots increase in size and number as the individual grows
older. Freckles in the underarms and groin typically develop later in
childhood.
4.) Myotonic

dystrophy is characterized by progressive muscle

wasting andweakness. People with this disorder often have
prolonged muscle contractions (myotonia) and are not able to relax
certain muscles after use. For example, a person may have
difficulty releasing their grip on a doorknob or handle. Also, affected
people may have slurred speech or temporary locking of their jaw.

Other signs and symptoms of myotonic dystrophy include clouding

of the lens of the eye (cataracts) and abnormalities of the electrical
signals that control the heartbeat (cardiac conduction defects). In
affected men, hormonal changes may lead to early balding and an
inability to father a child (infertility). The features of this disorder
often develop during a person's twenties or thirties, although they
can occur at any age. The severity of the condition varies widely
among affected people, even among members of the same family.
Polycystic kidney disease is a disorder that affects the kidneys
and other organs. Clusters of fluid-filled sacs, called cysts, develop
in the kidneys and interfere with their ability to filter
waste products from the blood. The growth of cysts causes the
kidneys to become enlarged and can lead to kidney failure. Cysts
may also develop in other organs, particularly the liver.
5.)

6.) Retinoblastoma

is a rare type of eye cancer that usually develops

in early childhood, typically before the age of 5. This form of cancer
develops in the retina, which is the specialized light-sensitive tissue
at the back of the eye that detects light and color.
In most children with retinoblastoma, the disease affects only one
eye. However, one out of three children
with retinoblastoma develops cancer in both eyes. The most
common first sign of retinoblastoma is a visible whiteness in the
pupil called "cat's eye reflex" or leukocoria. This unusual whiteness
is particularly noticeable in photographs taken with a flash. Other
signs and symptoms of retinoblastoma include crossed eyes or
eyes that do not point in the same direction (strabismus); persistent
eye pain, redness, or irritation; and blindness or poor vision in the
affected eye(s).

7.) Porphyria

is a group of disorders caused by abnormalities in the

chemical steps that lead to heme production. Heme is a vital
molecule for all of the body's organs, although it is most abundant
in the blood, bone marrow, and liver. Heme is a component of
several iron-containing proteins called hemoproteins,
including hemoglobin (the protein that carries oxygen in the blood).
Researchers have identified several types of porphyria, which are
distinguished by their genetic cause and their signs and symptoms.
Some types of porphyria, called cutaneous porphyrias, primarily
affect the skin. Areas of skin exposed to the sun become fragile and
blistered, which can lead to infection, scarring, changes in skin
coloring (pigmentation), and increased hair growth. Cutaneous
porphyrias include congenital erythropoietic porphyria,
erythropoietic protoporphyria, hepatoerythropoietic porphyria,
and porphyria cutanea tarda.
Other types of porphyria, called acute porphyrias, primarily affect
the nervous system. These disorders are described as "acute"
because their signs and symptoms appear quickly and usually last
a short time. Episodes of acuteporphyria can cause abdominal
pain, vomiting, constipation, and diarrhea. During an episode, a
person may also experience muscle weakness, seizures, fever, and
mental changes such as anxiety and hallucinations. These signs
and symptoms can be life-threatening, especially if the muscles that
control breathing become paralyzed. Acute porphyrias include
acute intermittentporphyria and ALAD deficiency porphyria. Two
other forms of porphyria, hereditary coproporphyria and

variegate porphyria, can have both acute and cutaneous

symptoms.

8.) Alexander

disease is a rare disorder of the nervous system. It is

one of a group of disorders, called leukodystrophies, that involve
the destruction of myelin. Myelin is the fatty covering that
insulates nerve fibers and promotes the rapid transmission of nerve
impulses. If myelin is not properly maintained, the transmission of
nerve impulses could be disrupted. As myelin deteriorates in
leukodystrophies such as Alexander disease, nervous system
functions are impaired.
Most cases of Alexander disease begin before age 2 and are
described as the infantile form. Signs and symptoms of the infantile
form typically include an enlarged brain and head size
(megalencephaly), seizures, stiffness in the arms and/or legs
(spasticity), intellectual disability, and developmental delay. Less
frequently, onset occurs later in childhood (the juvenile form) or in
adulthood. Common problems in juvenile and adult forms
of Alexander disease include speech abnormalities, swallowing
difficulties, seizures, and poor coordination (ataxia). Rarely, a
neonatal form of Alexander disease occurs within the first month of
life and is associated with severe intellectual disability and
developmental delay, a buildup of fluid in the brain (hydrocephalus),
and seizures.
Alexander disease is also characterized by abnormal protein
deposits known as Rosenthal fibers. These deposits are found in
specialized cells called astroglial cells, which support and nourish
other cells in the brain and spinal cord (central nervous system).

9.) Axenfeld-Rieger

syndrome is primarily an eye disorder, although it

can also affect other parts of the body. This condition is characterized
by abnormalities of the front part of the eye, an area known as the
anterior segment. For example, the colored part of the eye (the iris),
may be thin or poorly developed. The iris normally has a single central
hole, called the pupil, through which light enters the eye. People
with Axenfeld-Rieger syndrome often have a pupil that is off-center
(corectopia) or extra holes in the iris that can look like multiple pupils
(polycoria). This condition can also cause abnormalities of the cornea,
which is the clear front covering of the eye.
About half of affected individuals develop glaucoma, a serious condition
that increases pressure inside the eye. When glaucoma occurs
with Axenfeld-Rieger syndrome, it most often develops in late childhood
or adolescence, although it can occur as early as infancy. Glaucoma
can cause vision loss or blindness.
The signs and symptoms of Axenfeld-Rieger syndrome can also affect
other parts of the body. Many affected individuals have distinctive facial
features such as widely spaced eyes (hypertelorism); a flattened midface with a broad, flat nasal bridge; and a prominent forehead. The
condition is also associated with dental abnormalities including
unusually small teeth (microdontia) or fewer than normal teeth
(oligodontia). Some people with Axenfeld-Rieger syndrome have extra
folds of skin around their belly button (redundant periumbilical skin).
Other, less common features can include heart defects, the opening of
the urethra on the underside of the penis (hypospadias), narrowing of

the anus (anal stenosis), and abnormalities of the pituitary gland that
can result in slow growth.

10.)

Marfan syndrome is a disorder that affects the connective tissue in

many parts of the body. Connective tissue provides strength and

flexibility to structures such as bones, ligaments,
muscles, blood vessels, and heart valves. The signs and symptoms
of Marfan syndrome vary widely in severity, timing of onset, and rate of
progression.
The two primary features of Marfan syndrome are vision problems
caused by a dislocated lens (ectopia lentis) in one or both eyes and
defects in the large blood vessel that distributes blood from the heart to
the rest of the body (the aorta). The aorta can weaken and stretch,
which may lead to a bulge in the blood vessel wall (an aneurysm).
Stretching of the aorta may cause the aortic valve to leak, which can
lead to a sudden tearing of the layers in the aorta wall
(aorticdissection). Aortic aneurysm and dissection can be life
threatening.
Many people with Marfan syndrome have additional heart problems
including a leak in the valve that connects two of the four chambers of
the heart (mitral valve prolapse) or the valve that regulates blood flow
from the heart into the aorta (aortic valve regurgitation). Leaks in these
valves can cause shortness of breath, fatigue, and an irregular
heartbeat felt as skipped or extra beats (palpitations).

Individuals with Marfan syndrome are usually tall and slender, have
elongated fingers and toes (arachnodactyly), and have an arm span
that exceeds their body height. Other common features include a long
and narrow face, crowded teeth, an abnormal curvature of the spine
(scoliosis or kyphosis), and either a sunken chest (pectus excavatum)
or a protruding chest (pectus carinatum). Some individuals develop an
abnormal accumulation of air in the chest cavity that can result in the
collapse of a lung (spontaneous pneumothorax). A membrane called
the dura, which surrounds the brain and spinal cord, can be abnormally
enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia
can cause pain in the back, abdomen, legs, or head. Most individuals
with Marfan syndrome have some degree of nearsightedness (myopia).
Clouding of the lens (cataract) may occur in mid-adulthood, and
increased pressure within the eye (glaucoma) occurs more frequently in
people withMarfan syndrome than in those without the condition.

Inheritance through

RECESSIVE genes

1.)
Hereditary hemochromatosis (HH) is a genetic disease
that alters the body's ability to regulate iron absorption. HH
causes the body to absorb too much iron.
2.)
Usher syndrome is a condition characterized by partial or
total hearing loss and vision loss that worsens over time. The
hearing loss is classified as sensorineural, which means that it
is caused by abnormalities of the inner ear. The loss of vision
is caused by an eye disease called retinitis pigmentosa (RP),
which affects the layer of light-sensitive tissue at the back of
the eye (the retina).

3.)

Sickle cell disease is a group of disorders that

affects hemoglobin, the molecule in red blood cells that
delivers oxygen to cells throughout the body. People with this
disorder have atypical hemoglobin molecules called
hemoglobin S, which can distort red blood cells into a sickle, or
crescent, shape.

4.)
Xeroderma pigmentosum, which is commonly known as
XP, is an inherited condition characterized by an extreme
sensitivity to ultraviolet (UV) rays from sunlight. This condition
mostly affects the eyes and areas of skin exposed to the sun.
Some affected individuals also have problems involving the
nervous system.
The signs of xeroderma pigmentosum usually appear in infancy
or early childhood. Many affected children develop a severe
sunburn after spending just a few minutes in the sun. The
sunburn causes redness and blistering that can last for weeks.
People with xeroderma pigmentosum have a greatly increased
risk of developing skin cancer.

5.)
Oculocutaneous albinism is a group of conditions that
affect coloring (pigmentation) of the skin, hair, and eyes.
Affected individuals typically have very fair skin and white or
light-colored hair. Long-term sun exposure greatly increases
the risk of skin damage and skin cancers, including an
aggressive form of skin cancer called melanoma, in people
with this condition.Oculocutaneous albinism also reduces
pigmentation of the colored part of theeye (the iris) and the
light-sensitive tissue at the back of the eye (the retina). People
with this condition usually have vision problems such as

reduced sharpness; rapid, involuntary eye movements

(nystagmus); and increased sensitivity to light (photophobia).

6.)

Galactosemia is a disorder that affects how the body

processes a simple sugar called galactose. A small amount of
galactose is present in many foods. It is primarily part of a
larger sugar called lactose, which is found in all dairy products
and many baby formulas. The signs and symptoms
of galactosemia result from an inability to use galactose to
produce energy.

Affected infants typically develop feeding difficulties, a lack of energy

(lethargy), a failure to gain weight and grow as expected (failure to
thrive), yellowing of the skin and whites of the eyes (jaundice), liver
damage, and abnormal bleeding. Other serious complications of this
condition can include overwhelming bacterial infections (sepsis) and
shock. Affected children are also at increased risk of delayed
development, clouding of the lens of the eye (cataract), speech
difficulties, and intellectual disability. Females with
classic galactosemia may develop reproductive problems caused by
an early loss of function of the ovaries (premature ovarian
insufficiency).

7.)
Phenylketonuria (commonly known as PKU) is an
inherited 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.
If PKU is not treated, phenylalanine can build up to harmful

levels in the body, causing intellectual disability and other

serious health problems.
The signs and symptoms of PKU vary from mild to severe. The
most severe form of this disorder is known as classic PKU.
Infants with classic PKU appear normal until they are a few
months old. Without treatment, these children develop permanent
intellectual disability. Seizures, delayed development, behavioral
problems, and psychiatric disorders are also common. Untreated
individuals may have a musty or mouse-like odor as a side effect
of excess phenylalanine in the body. Children with classic PKU
tend to have lighter skin and hair than unaffected family members
and are also likely to have skin disorders such as eczema.

8.)

Tay-Sachs disease is a rare inherited disorder that

progressively destroys nerve cells (neurons) in the brain and

spinal cord.
The most common form of Tay-Sachs disease becomes apparent in
infancy. Infants with this disorder typically appear normal until the age
of 3 to 6 months, when their development slows and muscles used
for movement weaken. Affected infants lose motor skills such as
turning over, sitting, and crawling. They also develop an exaggerated
startle reaction to loud noises. As the disease progresses, children
with Tay-Sachs disease experience seizures, vision and hearing loss,
intellectual disability, and paralysis. An eye abnormality called a
cherry-red spot, which can be identified with an eye examination, is

characteristic of this disorder. Children with this severe infantile form

of Tay-Sachs disease usually live only into early childhood.

9.)
Cystic fibrosis is an inherited disease characterized by the
buildup of thick, sticky mucus that can damage many of the
body's organs. The disorder's most common signs and
symptoms include progressive damage to the respiratory
system and chronic digestive system problems. The features of
the disorder and their severity varies among affected
individuals.
10.) Carpenter syndrome is a condition characterized by the
premature fusion of certain skull bones (craniosynostosis),
abnormalities of the fingers and toes, and other developmental
problems.
Craniosynostosis prevents the skull from growing normally,
frequently giving the head a pointed appearance (acrocephaly).
In severely affected individuals, the abnormal fusion of the skull
bones results in a deformity called a cloverleafskull.
Craniosynostosis can cause differences between the two sides of
the head and face (craniofacial asymmetry). Early fusion of the
skull bones can affect the development of the brain and lead to
increased pressure within the skull (intracranial pressure).
Premature fusion of the skull bones can cause several
characteristic facial features in people with Carpenter syndrome.
Distinctive facial features may include a flat nasal bridge, outside
corners of the eyes that point downward (down-slanting

palpebral fissures), low-set and abnormally shaped ears,

underdeveloped upper and lower jaws, and abnormal eye shape.
Some affected individuals also have dental abnormalities
including small primary (baby) teeth. Vision problems also
frequently occur.
Abnormalities of the fingers and toes include fusion of the skin
between two or more fingers or toes (cutaneous syndactyly),
unusually short fingers or toes (brachydactyly), or extra fingers or
toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly
is most common between the third (middle) and fourth (ring)
fingers, and polydactyly frequently occurs next to the big or
second toe or the fifth (pinky) finger.

SEX - LINKED inheritance

1.)
Hemophilia is a bleeding disorder that slows the blood
clotting process. People with this condition experience
prolonged bleeding or oozing following an injury, surgery, or
having a tooth pulled. In severe cases of hemophilia,
continuous bleeding occurs after minor trauma or even in the
absence of injury (spontaneous bleeding). Serious
complications can result from bleeding into the joints, muscles,
brain, or other internal organs.
2.)
Muscular dystrophies are a group of genetic conditions
characterized by progressive muscle weakness
and wasting (atrophy). The Duchenne and Becker types of
muscular dystrophy are two related conditions that primarily
affectskeletal muscles, which are used for movement, and
heart (cardiac) muscle. These forms of muscular dystrophy
occur almost exclusively in males.

3.)
Anhidrotic ectodermal dysplasia with immune
deficiency (EDA-ID) is a form of ectodermal dysplasia, which is
a group of conditions characterized by abnormal development
of ectodermal tissues including the skin, hair, teeth,
and sweatglands. In addition, immune system function is
reduced in people with EDA-ID. The signs and symptoms of
EDA-ID are evident soon after birth.
Skin abnormalities in people with EDA-ID include areas that are
dry, wrinkled, or darker in color than the surrounding skin.
Affected individuals tend to have sparse scalp and body hair
(hypotrichosis). EDA-ID is also characterized by missing teeth
(hypodontia) or teeth that are small and pointed. Most people
with EDA-ID have a reduced ability to sweat (hypohidrosis)
because they have fewer sweat glands than normal or their
sweat glands do not function properly. An inability to sweat
(anhidrosis) can lead to a dangerously high body temperature
(hyperthermia), particularly in hot weather.

4.)

Fragile X syndrome is a genetic condition that causes a range

of developmental problems including learning disabilities and

cognitive impairment. Usually, males are more severely affected by
this disorder than females.
Affected individuals usually have delayed development of speech and
language by age 2. Most males with fragile X syndrome have mild to
moderate intellectual disability, while about one-third of affected
females are intellectually disabled. Children with fragile X
syndrome may also have anxiety and hyperactive behavior such as

fidgeting or impulsive actions. They may have attention deficit

disorder (ADD), which includes an impaired ability to maintain
attention and difficulty focusing on specific tasks. About one-third of
individuals with fragile X syndrome have features of autism spectrum
disorders that affect communication and social interaction. Seizures
occur in about 15 percent of males and about 5 percent of females
with fragile X syndrome.
Most males and about half of females with fragile X syndrome have
characteristic physical features that become more apparent with age.
These features include a long and narrow face, large ears, a
prominent jaw and forehead, unusually flexible fingers, flat feet, and
in males, enlarged testicles (macroorchidism) after puberty.

5.)

Rett syndrome is a brain disorder that occurs almost

exclusively in girls. The most common form of the condition is

known as classic Rett syndrome. After birth, girls with classic Rett
syndrome have 6 to 18 months of apparently normal development
before developing severe problems with language and
communication, learning, coordination, and other brain functions.
Early in childhood, affected girls lose purposeful use of their hands
and begin making repeated hand wringing, washing, or clapping
motions. They tend to grow more slowly than other children and
have a small head size (microcephaly). Other signs and symptoms
that can develop include breathing abnormalities, seizures, an
abnormal side-to-side curvature of the spine (scoliosis), and sleep
disturbances.

Researchers have described several variant or atypical forms of Rett

syndrome, which can be milder or more severe than the classic form.

6.)
Simpson-Golabi-Behmel syndrome is a condition that
affects many parts of the body and occurs primarily in males.
This condition is classified as an overgrowth syndrome, which
means that affected infants are considerably larger than normal
at birth (macrosomia) and continue to grow and gain weight at
an unusual rate. The other signs and symptoms of SimpsonGolabi-Behmel syndrome vary widely. The most severe cases
are life-threatening before birth or in infancy, whereas people
with milder cases often live into adulthood.
People with Simpson-Golabi-Behmel syndrome have distinctive
facial features including widely spaced eyes
(ocular hypertelorism), an unusually large mouth (macrostomia),
a large tongue (macroglossia) that may have a deep groove
orfurrow down the middle, a broad nose with an upturned tip, and
abnormalities affecting the roof of the mouth (the palate). The
facial features are often described as "coarse" in older children
and adults with this condition.

Focal dermal hypoplasia (also known as "Goltz syndrome") is a form

ofectodermal dysplasia.[1] It is a multisystem disorder characterized primarily
by skin manifestations to the atrophic and hypoplastic areas of skin which
are present at birth. These defects manifest as yellow-pink bumps on the
skin and pigmentation changes.[2] The disorder is also associated with
shortness of stature and some evidence suggests that it can cause
epilepsy.[3]

7.)

Focal dermal hypoplasia has been associated with PORCN gene mutations on
the X chromosome.[4] 90% of the individuals who are affected with the syndrome

are female: the commonly accepted, though unconfirmed, explanation for this is
that the non-mosaic hemizygous males are not viable. [5]

8.)

Mucopolysaccharidosis type II (MPS II), also known as Hunter

syndrome, is a condition that affects many different parts of the

body and occurs almost exclusively in males. It is a progressively
debilitating disorder; however, the rate of progression varies among
affected individuals.
At birth, individuals with MPS II do not display any features of the
condition. Between ages 2 and 4, they develop full lips, large
rounded cheeks, a broadnose, and an enlarged tongue
(macroglossia). The vocal cords also enlarge, which results in a
deep, hoarse voice. Narrowing of the airway causes frequent upper
respiratory infections and short pauses in breathing during sleep
(sleep apnea). As the disorder progresses, individuals need medical
assistance to keep their airway open.
Many other organs and tissues are affected in MPS II. Individuals
with this disorder often have a large head (macrocephaly), a buildup
of fluid in the brain (hydrocephalus), an enlarged liver and spleen
(hepatosplenomegaly), and a soft out-pouching around the bellybutton (umbilical hernia) or lower abdomen (inguinal hernia). People
with MPS II usually have thick skin that is not very stretchy. Some
affected individuals also have distinctive white skin growths that look
like pebbles. Most people with this disorder develop hearing loss and
have recurrent ear infections. Some individuals with MPS II develop
problems with the light-sensitive tissue in the back of the eye (retina)
and have reduced vision. Carpal tunnel syndrome commonly occurs

in children with this disorder and is characterized by numbness,

tingling, and weakness in the hand and fingers. Narrowing of the
spinal canal (spinal stenosis) in the neck can compress and damage
the spinal cord. The heart is also significantly affected by MPS II, and
many individuals develop heart valve problems. Heart valve
abnormalities can cause the heart to become enlarged (ventricular
hypertrophy) and can eventually lead to heart failure.

9.)

Barth syndrome is a rare condition characterized by an

enlarged and weakened heart (dilated cardiomyopathy), weakness

in muscles used for movement(skeletal myopathy), recurrent
infections due to small numbers of white bloodcells (neutropenia),
and short stature. Barth syndrome occurs almost exclusively in
males.
In males with Barth syndrome, dilated cardiomyopathy is often
present at birth or develops within the first months of life. Over time,
the heart muscle becomes increasingly weakened and is less able to
pump blood. Individuals with Barth syndrome may have elastic fibers
in place of muscle fibers in some areas of the heart muscle, which
contributes to the cardiomyopathy. This condition is called
endocardial fibroelastosis; it results in thickening of the muscle and
impairs its ability to pump blood. In people with Barth syndrome, the
heart problems can lead to heart failure. In rare cases, the
cardiomyopathy gets better over time and affected individuals
eventually have no symptoms of heart disease.

10.)

Aicardi syndrome is a disorder that occurs almost exclusively

in females. It is characterized by three main features that occur

together in most affected individuals. People with Aicardi
syndrome have absent or underdeveloped tissue connecting the
left and right halves of the brain (agenesis or dysgenesis of
thecorpus callosum). They have seizures beginning in infancy
(infantile spasms), which tend to progress to recurrent seizures
(epilepsy) that can be difficult to treat. Affected individuals also
have chorioretinal lacunae, which are defects in the light-sensitive
tissue at the back of the eye (retina).
People with Aicardi syndrome often have additional brain
abnormalities, including asymmetry between the two sides of the
brain, brain folds andgrooves that are small in size or reduced in
number, cysts, and enlargement of the fluid-filled cavities (ventricles)
near the center of the brain. Some have an unusually small head
(microcephaly). Most affected individuals have moderate to severe
developmental delay and intellectual disability, although some people
with this disorder have milder disability.