Warkany syndrome or Trisomy 8 is a very rare congenital genetic disorder with an occurrence of about 1 in 50,000 births. It is more common in males than females. The disorder was first reported by a pediatrician named Dr. Josef Warkany during his study of birth defects on children at the Cincinnati Children’s Hospital Research Foundation. Hence Trisomy 8 is also known as Warkany Syndrome.
Souce : Wikipedia
As suggested by the name, Trisomy 8 is a genetic disorder caused due to the presence of 3 copies of the chromosome 8 instead of the usual 2. Though the exact cause of these chromosomal aberrations is not known, the uneven division of cells happen more due to external factors. So, Trisomy 8 can be attributed more to probability and not due to hereditary.
The most common symptoms of Warkany are skeletal and facial anomalies, mental retardation, kidney and heart defects. However, one of the most characteristic features of individuals with Warkany is that they are born without knee caps. Other symptoms include: Curved backbone, deep creases on soles and palms, disproportionate body, under developed genitals and a narrow pelvis.
The condition can be either severe or mild. Severity is influenced by the proportion of cells affected and the location as well. Severe Trisomy 8 is also known as complete Trisomy 8 while the milder form is called Trisomy 8 mosaicism.
Tests for diagnosis of Warkany syndrome include biopsy of the skin and karyotyping or blood chromosome testing. Antenatal diagnosis can be done by cytogenic methods such as antenatal echograph, testing of the amniotic fluid and placenta. Chorionic Villus Sampling is another advanced method for testing if the fetus presents this condition or not. Positive tests are further subjected to direct testing and long term culture. Detailed ultrasound scans are conducted in mothers suspected with carrying a trisomy 8 fetus.
Though there is no cure for the condition, the disabilities can be treated in most cases. Some of the physical abnormalities such as cleft palate, undescended testicles and strabismus can be corrected by surgery. Some others do not cause any potential harm to the child and so lesser cause for worry. Such symptoms that are not associated with deformities and health issues are often not treatable.
Research has led to breakthrough therapies in the treatment of this condition. One such therapy is the use of anti-cancer drugs that prevent cell growth and destroy cancerous cells. This helps stabilize the Trisomy 8 blood count.
Treatment options thus include many corrective surgeries and multiple long term drugs and physiotherapy. All these increase the cost of treatment and make things difficult for the care givers. Expensive long term care is a major drain on the resources and impacts the lifestyle of the family and the individual as well.
Most of the full trisomy 8 pregnancies end in miscarriage during the first trimester itself. It is the partially affected ones that survive. The mild cases can live a normal lifespan with surgeries and drugs. However, the more severe cases may suffer from cancer of the kidneys or myeloid leukemia.