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Cri du Chat Syndrome

Cri du Chat syndrome is a genetic disorder that is quite rare. It only occurs in about 1 in 20,000 to 50,000 births. It is a disorder that affects the nervous system and larynx and gets its name from the baby’s cry in those affected. The newborn will sound similar to a kitten and this is due to the problems with the larynx. Most children will get better by the time they are 2 years of age. However, there are issues with the disorder that can cause problems.

These issues include a low birth weight, poor motor skills, uncommon facial traits, feeding issues due to the problems with sucking and swallowing, speech delays, motor and cognitive delays, and behavioral problems. The behavioral problems include hyperactivity, repetitive movements and even aggression. Some infants are born with heart defects and some believe it to cause severe learning disabilities in those with the syndrome.

What causes Cri du Chat is a chromosomal problem that occurs when a piece of chromosome 5 is missing. While most people do not inherit this syndrome, about 10 percent of the cases do. In these 10 percent, the mother or father carries a chromosomal rearrangement called a balanced translocation, where no genetic material is lost or gained. Most cases are believed to happen during the development of the egg or sperm.

While there are no known treatments, parents can have genetic counseling to be sure that one of the parents has the rearrangement of chromosome 5.

The unique crying does dissipate over time, however some children may have mental retardation or a host of other issues with Cri du Chat. There is also no preventative measures available. However, genetic counseling is again, a good idea for parents to consider to be sure that they are not carrying this trait.

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Hemophilia: A Genetic blood Condition

Hemophilia is a genetic disease of the blood where the blood fails to clot. It is because of a number of conditions where the blood clotting property of the blood is lost. It is one of the most common disorders associated with inbreeding in humans. This also can be termed the most common type of disorder which occurs in one individual in 10,000 births in male and one in 34,000 female births. This is an X chromosome based disorder hence it is more common in males than in females. Men have only one X chromosome, whereas females have two X chromosome. If a X chromosome with a Hemophilia gene is in females, it can be repressed by the other X chromosome. Many females are carriers instead of this disease affecting them. They pass it onto males by inheriting from their fathers or mothers.

In this condition the factors that control the clotting factor in the plasma are lowered. This ceases the clotting of blood when the skin opens up. In a normal process the fibrin is formed which forms on top of the scab. But in a person with hemophilia, the blood fails to clot because of inability of fibrin to make a patch on the skin. The person bleeds for a much longer time and can also lead to the death of a person from excessive bleeding if no precaution is taken. If the injury is inside the brain or joints, this can cause excessive damage to muscles and other tissues leading to infection of the entire areas.

In people with deficiency in vitamin K, this disease can be seen, where the blood fails to clot. This occurs only in little children and is often confused for a genetic disease. People with disease have to be careful of getting cuts and bruises and should avoid any kind of rough sport.

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Genetic Diseases: Cystic Fibrosis

Cystic Fibrosis is a genetic disease passed down from the parents to a child, in which case both parents are carriers the odds are one in four of their children will manifest symptoms of cystic fibrosis. This chronic inherited disease is a progressive one in which the body’s mucus glands produce a thick, sticky mucus that causes severe respiratory problems and digestive disorders. Cystic fibrosis is often fatal to those afflicted, although with modern medical advances the lifespan is up to about 30 years of age for the average patient.

When the body produces copious amounts of thick and sticky mucus, this mucus interferes with the normal body processes in the pancreas, digestive system and reproductive system. It typically wreaks all kinds of havoc on the lungs and sweat glands as well. Symptoms of cystic fibrosis are problems such as persistent coughing and wheezing, frequent pneumonia, hungry all the time yet never gaining weight, to name just a few. People who are carriers of the cystic fibrosis traits are not necessarily affected by the disease itself.

When both parents are carriers of cystic fibrosis genes, the chances of having a child who actually has the disease increases to one in four. It is important that this disease be diagnosed as early as possible so that appropriate treatment can begin. Proper treatment can lessen the severity of many symptoms and preventative measures can help the body’s functions. Even with treatment, cystic fibrosis is a complication ridden disease that often shortens a patient’s life span. However, new and improved treatments are on the horizon in hopes of improving both the quality of life of those afflicted with cystic fibrosis as well as the overall longevity of life. When parents learn their child has cystic fibrosis, there are many resources and connections with other parents they can contact for information and support in order to not deal with the disease alone. With proper care, the child can live a fulfilling life.

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