Oriel.org Medical Research Resources

Friday August 18, 2017
Warkany syndrome & Warkany syndrome research
Warkany syndrome

Warkany syndrome, specifically Trisomy 8, is a rare genetic disorder. When a baby is formed at conception, it receives its DNA from both the mother and the father in the form of forty-six chromosones. Twenty-three are supplied by each parent. But in some instances, three are formed instead of two, giving the name "trisomy". Each set of chromosones, known as autosomes, are numbered one through twenty-three, and "trisomy 8" refers to the eighth chromosone that has developed three copies instead of two.

 


 

Further, Trisomy 8 is sometimes referred to as Warkany Syndrome after Josef Warkany, the pediatrician and scientist from Cincinnati Children's Hospital Research Foundation who is considered the "Father of Teratology". Teratology is the study of birth defects, and Warkany proved that the baby's nine months in the womb were just as important as the time after he/she was born. He also proved that outside factors such as food and drinks the mother consumed, and exposure to carcinogens, would impact a baby's ability to develop. Prior to this, it was generally assumed that nature dictated the make-up of the fetus.

Quite often fetuses that are affected by Warkany syndrome naturally abort and the woman suffers a miscarriage. But in rare instances, where the baby survives and is actually born alive, according to The University of British Columbia Department of Medical Genetics, Trisomy 8 is characterized by "mental retardation, dysmorphic facies, skeletal anomalies, congenital heart defects and kidney malformations" (Webb AL 1998). The condition is so rare that it is often confused with Down Syndrome which is actually Trisomy 21 and thus, a different genetic disorder.

Warkany syndrome research was conducted in the 1960s by Dr. Warkany. He identified both the condition and its cause. It was found that nothing either the mother nor father did created the extra chromosone. In fact, the defect happens almost at the time of conception, as a mistake occurs in the division of cells. Approximately one in twenty-five thousand to fifty thousand babies are born with Trisomy 8 Syndrome.

Additional Warkany syndrome research determined that many of the babies born have gone on to lead lives much like others. The stages or levels of retardation are quite varied with some people only experiencing minor eye and speech impediments. There are documented cases of people who have held positions such as professors and graphic designers. Others may experience severe medical problems. But one physical difference that many Warkany syndrome babies exhibit is the absence of one or more kneecaps. This does not usually require treatment.

Because of Warkany syndrome research, examinations are conducted on babies who were prenatally diagnosed with Trisomy 8. Today, the medical profession seeks to establish any course of treatment immediately so that the child may be given every opportunity. Surgeries may be scheduled early in the child's life. Conversely, many people are never diagnosed with the condition until adult years when they are investigating another medical condition.

In conclusion, one of the most useful groups that supports rare chromosone disorders is "Unique" (www.rarechromo.org). As a support group, they offer many studies from documented Warkany syndrome research, as well as actual experiences from both the parents of babies with Trisomy 8 and children who have grown up.

 
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