DOMINANT

Marfan syndrome is a genetic condition that affects connective tissue, which

provides support for the body and organs. It caused by a mutation in a gene called
FBN1. The mutation limits the body's ability to make proteins needed to build
connective tissue. Marfan syndrome can damage the blood vessels, heart, eyes,
skin, lungs, and the bones of the hips, spine, feet, and rib cage.

Marfan syndrome is rare, happening in about 1 in 5,000 people.

Porphyria refers to a group of disorders that result from a buildup of natural

chemicals that produce porphyrin in your body. These disorders are usually
inherited, meaning they are caused by gene mutations link passed from parents to
children. If you have porphyria, cells fail to change chemicals in your body—called
porphyrins and porphyrin precursors—into heme, the substance that gives blood its
red color.

The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500
to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most
common type of porphyria.

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia

literally means "without cartilage formation”. It is a genetic condition affecting a
protein in the body called the fibroblast growth factor receptor. In achondroplasia,
this protein begins to function abnormally, slowing down the growth of bone in the
cartilage of the growth plate (particularly in the long bones of the arms and legs)).

Achondroplasia is the most commonly occurring abnormality of bone growth

(skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births.

Ehlers-Danlos syndrome is a group of inherited disorders that affect your

connective tissues — primarily your skin, joints and blood vessel walls. Connective
tissue is a complex mixture of proteins and other substances that provide strength
and elasticity to the underlying structures in your body.

The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at

least 1 in 5,000 individuals worldwide.
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow
along your nerves. These tumors can develop anywhere in the nervous system,
including the brain, spinal cord and nerves. There are three types of
neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and
schwannomatosis.

NF1 is among the most common genetic conditions. It is estimated that as many as
1 in 3,000 people have an NF1 mutation. About 50% of people affected by NF1 do
not have any family history of the condition.

RECESSIVE

Phenylketonuria also called PKU, is a rare inherited disorder that causes an amino
acid called phenylalanine to build up in the body.

PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected
shortly after birth by newborn screening, and treatment is started promptly. As a
result, the severe signs and symptoms of classic PKU are rarely seen.

Alkaptonuria, or black urine disease is a rare condition in which a person's urine

turns a dark brownish-black color when exposed to air. It’s a very rare inherited
disorder that prevents the body fully breaking down two protein building blocks
(amino acids) called tyrosine and phenylalanine. It results in a build-up of a
chemical called homogentisic acid in the body.

This condition is rare, affecting 1 in 250,000 to 1 million people worldwide.

Alkaptonuria is more common in certain areas of Slovakia (where it has an
incidence of about 1 in 19,000 people) and in the Dominican Republic.

Color blindness it means you see colors differently than most people. Most of the
time, color blindness makes it hard to tell the difference between certain colors.
Usually, color blindness runs in families. There's no cure, but special glasses and
contact lenses can help.

In men, the prevalence of color blindness is around 5.0% to 8.0%, while in women
the prevalence is only 0.5% to 1.0%.
Muscular dystrophies are a group of muscle diseases caused by mutations in a
person's genes. Over time, muscle weakness decreases mobility, making everyday
tasks difficult.

If both parents carry an altered version of the gene that causes the condition,
there's a: 1 in 4 chance their child will have MD. 1 in 4 chance their child will be
healthy but carry the mother's faulty gene. 1 in 4 chance their child will be healthy
but carry the father's faulty gene.

Sickle cell disease is a form of the inherited blood disorder, sickle cell disease. The
hemoglobin is abnormal, which causes the red blood cells to become hard and
sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early,
which causes a constant shortage of red blood cells.

1 in 2 chance each child they have will just inherit a copy of the sickle cell gene
from 1 parent and be a carrier. 1 in 4 chance each child they have will inherit
copies of the sickle cell gene from both parents and will be born with sickle cell
disease.