Genetic disorder

Angelman syndrome

Error in chromosome 15 can result in the development of Angelman syndrome. Angelman syndrome is a disorder that has a few serious symptoms that can affect how well a person’s life is. The condition can be treated but none of the spoken cures have been proven to be especially effective. There are still many studies […]

Prader-Willi Syndrome

Prader-Willi Syndrome is a rare genetic disorder that some children are born with. This is a very rare disorder that affects the hypothalamus. It is caused by a spontaneous gene defect on chromosome 15 which can sometimes occur at the moment of conception. The hypothalamus is the part of the brain that signals feelings of […]

Spinal muscular atrophy

Atrophy is a partial or complete wasting away of any given body part. Most commonly, however, muscles atrophy for a variety of reasons. In the case of spinal muscular atrophy (SMA), the atrophy is an inheritable condition; it is a group of inherited diseases that result in the gradual degeneration of the spinal muscles. Eventually, […]

Trisomy 13 syndrome

Trisomy 13, sometimes called Patau Syndrome, is a rare chromosomal genetic disorder in which the affected person has three copies of genetic material (DNA) from chromosome 13 in their body’s cells; the majority of people have two copies from every chromosome. In even rarer cases, the extra material is attached to other chromosomes during the […]

Hemochromatosis

When the body absorbs too much iron from the foods that are eaten, hemochromatosis occurs. The body basically experiences iron overload because it cannot break the iron down very well, so too much is absorbed from the gastrointestinal tract; there are various reasons that can cause too much iron to be absorbed, but this is […]

Retinitis pigmentosa treatment

As human beings, there is very little more universally feared than the dark, and few disabilities more frightening than blindness which would leave us trapped in it. Retinitis pigmentosa is a condition which, to many people, might sound like a nightmare. Retinitis pigmentosa refers to a group of genetic conditions in which the eye progressively […]

Marfan syndrome

Marfan syndrome is a rare but serious genetic disorder that affects approximately 60,000 Americans. It has excessive affects on the connective tissues within your body. These tissues are responsible for keeping your body held together. Usually the tissues become unhealthy as a result of natural aging and can cause your skin to sag as a […]

Jacob’s syndrome

Jacob’s Syndrome is a very rare chromosome syndrome. Male infants who are born with an extra Y male chromosome have Jacob’s syndrome. Normal males are born with an X and a Y chromosome. The extra Y chromosome is in inherited from the father. Jacob’s syndrome affects less than 200,000 people in the United States and […]

Androgen insensitivity syndrome

Androgen Insensitivity Syndrome (AIS) is a condition that some individuals are born with. The person with AIS may have all of the physical characteristics of a female but will have the genetic or DNA makeup of a male. This rare disorder affects about 7,500 women in the United States alone. This disorder happens when a […]

Haemophilia A

Haemophilia is an inherited disorder associated with serious disorder of the blood clotting factors. Haemopholia has two forms. Haemophlia A and Haemophilia B. Haemophilia A is the most common form. This disorder is inherited as an X-linked recessive trait and affects the clotting factors VIII and IX. The gene for haemophilia A is found in […]

Achondroplasia dwarfism

Achondroplasia dwarfism is the most common type of drawfism. The term achondroplasia is formed from a Greek world that means without cartilage formation. Achondroplasia Dwarfism is basically a bone growth disorder. While the Greek name would lend you to believe that the problem lies with the cartilage that is not the case with this type […]

Familial dysautonomia

One of the many hereditary sensory and autonomic neuropathies (HSAN) is called damilial dysautomomia (FD). This is a disorder that affects the nervous system and it is an inherited disease. It affects the cells that control the involuntary actions of the body like breathing, digestion, the production of tears and the normal regulation of body […]

Tourette syndrome

Tourette Syndrome is a neurological disorder. The main characteristic of Tourette syndrome is having both motor and vocal tics. This disorder was named after a man named George Gilles de la Tourette who was a French neurologist in the 1800′s. Tourette Syndrome is considered genetic although studies are on-going while researchers try to determine exactly […]

Down syndrome

Down syndrome is a genetic anomaly that a child can be born with. Most people are born with 46 chromosomes. Children with Down’s syndrome have an extra chromosome with the most common being an extra 21st chromosome. The condition is called Trisomy 21. When the extra chromosome is present it can cause many different birth […]

Turner syndrome

Turner syndrome is a genetic disorder which occurs in females. When an embryo is formed in the uterus, they are given a pair of sex chromosomes to determine whether they are male or female. The male receives XY chromosomes and the female receives XX chromosomes. In Turner syndrome females are missing either a portion or […]

Cystic fibrosis

Cystic fibrosis is a disease that is inherited and is usually diagnosed in infants and young children. However there are mild cases that sometimes do not manifest until someone is a teen or young adult. This disease affects the lungs, the pancreas, the sinuses, the intestines, the liver, and sex organs. This disease affects both […]

Neurofibromatosis

Neurofibromatosis is a medical condition that causes skin and bone abnormalities by allowing tumors to grow in nerve tissues. Also referred to as NF, neurofibromatosis is often diagnosed in children ranging from 3 to 16 years of age. Although some children may become disabled from the disease, most children can live a fairly normal life. […]

Crohn’s Disease

There are those of us that are blessed with perfect health and for that we should be extremely thankful because for every person that is lucky enough to live without disease there are hundreds that are not. Within the realm of disease, there are both acute and chronic conditions that are curable and unable to […]