Custom Search

The Basics Of Warkany Syndrome

Warkany Syndorme better known as Trisomy 8 mosaicism is a genetic condition wherein a couple of cells and tissues in the body have 3 copies of the chromosome no. 8. This could lead to a number of problems like mental retardation, deformities of the face and orthopedic abnormalities. Some cases of the Warkany Syndrome do not show any diagnosable clinical symptoms. Many a times, depending on which body cells has the chromosomal defect, the abnormality can be gauged. People with the defect are more slender having normal height. However, they may have a huge asymmetrical head, deeply set and widely spaced eyes and a long forehead, low set prominent ears and very thick lips, expressionless face and visceral abnormalities.Most of them experience mild to an extreme form of retardation in mental and motor skills accompanied by a delayed and badly articulated speech. There is a problem in the joints along with skeletal anomalies. There might be a permanent flexion of two or more fingers. Many trisomy 8 persons are mosaic with little or no manifestation of clinical symptoms. Some may have just a part of the extra chromosome 8 missing. Similarly, they show varying degrees of symptoms.

Warkany Syndrome can severely affect the fetus in a number of ways. A full-fledged trisomy 8 can result in a miscarriage of the fetus, while those with trisomy 8 mosaicism have better odds to survive. The type and the gravity of the symptoms are largely dependent on where and in what proportion the trisomy 8 is located in comparison with the normal cells. A complete trisomy 8 is like an early lethal condition resulting in 0.8% of miscarriage; the milder mosaic form has a low proportion of affected cells and therefore can have a mild range of physical abnormalities and delays in development of mental abilities. It is well described with over 75% reported cases. Sometimes there is a high amount of trisomy 8 cells in the extra-embryonic tissue, while the majority have the trisomy 8 cells in the placenta. It is called Confined placenta mosaicism and does not have any long term effects on the fetus.

In case of a miscarriage due to Warkany's Syndrome, the following pregnancies should be tested for diagnosis of the same. In case any abnormality is detected on the ultrasound implies that the fetus is affected.

In a rare case where the fetus inherited the Chromosome 8 form both parents showed that the child exhibited no clinical features of trisomy 8 mosaicism. His growth and development was appropriate.

By and large there is no treatment for Warkany's Syndrome. Therefore, any treatment measure undertaken is usually with respect to the signs and symptoms that the person may be showing at any point in time. Surgeries are usually undertaken immediately post birth. A number of features of trisomy 8 like distortions in facial features, creases in hand and foot, changes in bone and tissues do not warranty treatment as they may not be causing any harm.

For children with mental retardation due to the syndrome, a child development team encourages an early intervention program and most of these children are sent to special schools with a differently devised form of education catering to their special needs.