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Understanding Patua Syndrome
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What is Patau Syndrome?
Patua syndrome is a rare genetic disorder in which a person has an extra 13 chromosome.
Symptoms and Treatment options
- Individuals with Patau syndrome might have underdeveloped organs, clef palate (lip), extra fingers/toes, deformed ears
- There are no specific treatment options because every case is different. Most doctors with focus on minimizing discomfort
References.
Parents report
Statistics and is it curable?
genetic counselor report
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0291918
https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/
https://www.nhs.uk/conditions/pataus-syndrome/#:~:text=There's%20no%20specific%20treatment%20for,baby%20is%20able%20to%20feed.
https://www.health.state.mn.us/diseases/cy/trisomy13.html#:~:text=Trisomy%2013%20occurs%20in%201,in%20future%20pregnancies%20is%201%25.
https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome
changes in daily routine: it really just depends on the case in some cases the babies can walk and talk and in other the baby has to stay in the hospitle bed.
Accommodations: Some children need physical and speech therapy
Estimated medical cost: Is about $23,000 out of pocket
Emotinal impact: Some parents become severally depressed
Do we have to move: You do not have to move
Will they treat my child differently: They will treat my child differently but of the way they may look.
- Trisomy 13 occurs in 1 of 10,000-16,000 births and the incidence increases with increased maternal age. The risk of recurrence in future pregnancies is 1%.
- There is no cure for patau syndrome and most cases are fatal.
How is it inherited: Trisomy 13 occurs in 1 of 10,000-16,000 births and the incidence increases with increased maternal age. The risk of recurrence in future pregnancies is 1%. Most cases are not inherited and result from random formation of eggs and sperm in healthy parents.
the different symtoms
Research and Future Prospects
- Ongoing research aims to understand the genetic basis of Patua Syndrome and develop targeted interventions for affected individuals. Most of the research shows that majority of babies born with patau syndrome do not like past 10 years old.
Diagnosis and Management
Diagnosing Patua Syndrome involves genetic testing and evaluation of facial features and development milestones.
Conclusion
Patau Syndrome
- Patua Syndrome is a complex condition that requires ongoing research, early diagnosis, and comprehensive support for affected individuals.