Summary about Disease
Warkany Syndrome 1, also known as Trisomy 18 or Edwards Syndrome, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is associated with severe intellectual disability and a wide range of physical abnormalities, often affecting multiple organ systems. Most infants with Trisomy 18 do not survive past their first year.
Symptoms
Symptoms of Trisomy 18 can vary but often include:
Low birth weight
Small, abnormally shaped head (microcephaly)
Heart defects (present in about 90% of cases)
Clenched fists with overlapping fingers (index finger overlapping the 3rd, and 5th overlapping the 4th)
Rocker-bottom feet
Kidney problems
Cleft lip and/or cleft palate
Omphalocele (abdominal organs outside the body)
Short neck
Intellectual disability
Developmental delays
Feeding difficulties
Breathing difficulties
Causes
The primary cause is the presence of an extra copy of chromosome 18 (Trisomy 18). In most cases (about 95%), it's a full extra chromosome in every cell. Other cases are due to mosaicism (some cells have the extra chromosome, others don't) or partial trisomy (only a portion of chromosome 18 is duplicated). Trisomy 18 typically occurs as a random event during the formation of egg or sperm cells or during early fetal development. The risk of having a child with Trisomy 18 increases with maternal age, but it can occur in women of any age.
Medicine Used
There is no cure for Trisomy 18, and treatment focuses on managing individual symptoms and providing supportive care. Medications may be used to treat specific heart conditions, seizures, or infections. Interventions such as feeding tubes or breathing support may be necessary.
Is Communicable
No, Trisomy 18 is not a communicable disease. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since Trisomy 18 is a genetic condition, there are no specific precautions to prevent its occurrence. Genetic counseling is recommended for families with a history of chromosome abnormalities or who are concerned about the risk of having a child with Trisomy 18. Prenatal screening tests can help detect Trisomy 18 during pregnancy.
How long does an outbreak last?
Trisomy 18 is not an infectious disease, so the concept of an "outbreak" is not applicable. It is a genetic condition present from conception.
How is it diagnosed?
Trisomy 18 can be diagnosed during pregnancy through prenatal screening (e.g., maternal blood tests, ultrasound) and diagnostic testing (e.g., amniocentesis, chorionic villus sampling). After birth, diagnosis is based on physical examination, observation of characteristic features, and chromosome analysis (karyotype) to confirm the presence of an extra chromosome 18.
Timeline of Symptoms
Symptoms are present from birth and often detectable prenatally. There is no specific "timeline" of symptom development after birth; the symptoms are congenital (present at birth). Severity and specific symptoms vary among individuals.
Important Considerations
Trisomy 18 is a serious condition with a high mortality rate. Most infants do not survive past their first year. The focus of care is on providing comfort, managing symptoms, and supporting the family. Ethical considerations regarding medical interventions and quality of life are crucial in the management of individuals with Trisomy 18. Families often benefit from support groups and resources that provide information and emotional support.