Warkany Syndrome (Trisomy 8)

Warkany Syndrome (Trisomy 8)

What is Warkany Syndrome?

Diagnosis

Symptoms/ Complications

Warkany Syndrome will usually cause many physical abnormalities as well as mental disabilities. Most cases dealing with this syndrome are not life-threatening, but those with heart defects will have severe complications.

The symptoms are most likely to deal with:

• Narrow bone stucture
• Malformed ears
• Large nose
• Strabismus
• Hydromephorosis
• Curved Spin
• Leukopenia
• Anemia
• Heart defects

This syndrome is also known to cause 0.8% of infant deaths.

Prevalence Rate

Treatment

Research and Studies

• Warkany syndrome is a genetic disorder caused by an unnatural chromosome division.

• It is commonly known as Mosaic Trisomy 8.

• A person who has Warkany Syndrome is one who has three copies of the chromosome 8 existing in each cell.

• The research involved MDS Trisomy 8 patients to incorperate Vidaza and Estybon in their transfusion cycles. The purpose for Vidaza was to complete their blood transfusion and Estybon to stablalize the amount of mutated Trisomy 8 blood cells.

Most people suspect that their child has warkany syndrome because the child born has rare characteristics like:

• Uneven leg lenghts
• Curved backbone
• Deep creases in the feet and hands

• Vidaza and Estybon are similar drugs as they both can be used to prevent cell growth and kill cancerous cells. The only difference is that Estybon is an experimental drug.

There are ways that people can test for Warkany Syndrome which can be done through.....

• Blood chromosome testing
• Skin biopsies

• In the Vidaza study twenty-nine cases were reported with serious side effects from sixteen patients who had infection.

• Characteristics of Warkany Syndrome cannot be found in pregnancy.

With the Estybon study two out of the six patients managed a stable Trisomy 8 blood count. The rest of the four patients had serious side effects such as:

• Diarrhea
• Painful urination
• fatigue and nosebleeds

References

• Vuong, L. (2011, October 26). Estybon may be effective as salvage therapy for higher-risk mds patients and patients with trisomy 8. The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2011/10/26/estybon-rigosertib-may-be-effective-as-salvage-therapy-for-higher-risk-mds-patients-and-patients-with-trisomy-8/.
• Signs of trisomy 8 mosaicism. (2012., Nov. 06) Retrieved from http://www.rightdiagnosis.com/t/trisomy_8_mosaicism/signs.htm.
• Trisomy 8 mosaicism syndrome. (n.d.). Retrieved from http://www.healthline.com/galecontent/trisomy-8-mosaicism-syndrome.
• Trisomy 8. (n.d). Retrived from http://diseasedisease.com/Syndrome/Trisomy-8.html.
• Vuong, L. (2012, September, 04). Vidaza may help certain lower-risk mds patients transfusion independence (eha 2012) The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/09/04/vidaza-azaciticline-lower-risk-mds-transfusion-eha-2012/.
• Haehle, M. (2012, November 07). Potential new mds treatments: What is on the horizon?. The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/11/07/new-mds-myelodysplastic-syndromes-treatments/.
• J3, L. (2012, Feburary 14). Oral estybon shows activity in myelodysplastic syndromes (ash 2011). The MDS Beacon. Retrieved from http://www.mdsbeacon.com/news/2012/02/14/oral-estybon-rigosertib-shows-activity-in-myelodysplastic-syndromes-ash-2011/.

No cure for Warkany Syndrome has been discovered, but there are a few ways to treat some of the disabilities.

Many of the physical flaws from Warkany syndrome can be restructured through surgery or like:

• Cleft Palate
• Strabismus
• Undescended Testicles

Other characteristics of Warkany Syndrome cause no potential harm to the body at all such as:

• Facial features
• Skin Tissue
• Change in bone structure

Warkany syndrome is considered to be a rare disease since it affects less than 200,000 people in the U.S.

Warkany syndrome even has a frequency of 1 to 25,000 and 1 to 50,000 births and is mainly seen in male babies.

By: Ashley Ngaoka