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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Will Joubert Syndrome In The Older Child Affect The Siblings?

my daughter 4yrs old had sever fever 102- 106degree continous for past 25 days. even with heavy doss atibiotic couldnt control the fever. admitted in icu. at last now fever reduced to 99*F. while birth because of some problem she couldnt control her head,cant sit ,roll,stand, speak till now. we followed physiotherapy, made mri scan for brain they said that brain is affected during birth. but she laughs,identifies persons, expresses for hunger,pain etc... but now after this 25 days fever now she lost everthing, always crying, bites her teeth heavily with sound, leaves saliva out of her mouth,not at all sleeping, not continous but breathing problem. we made ct scan for head, they said it is JOUBERT SYNDROME . we are feeding her by tube, she is getting some inconvinience for swallowing. what is her position now. Drs. saying her condition is critical any may happen. is it true. we are unable to see her like this, she is struggling a lot. she is our only baby after 5yrs of our married life. will it affect our next baby,is it hereditery. please say us whatever is the truth.
Thu, 5 Mar 2015
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Pediatrician,  's  Response
Dear user
Thanks for your query at health care magic.
Joubert syndrome is a autosomal recessive genetic disorder, that mean occur only when both parents carry the defective gene and these both defective gene transfer to child. but both parents also have one normal gene. if even one parents transfer the normal gene then this syndrome will not occur but that child will be carrier of the disease. The can have child with this syndrome if he marry to another carrier.

your one child is affected that mean there is 25% chances that your another child can also be affected. so i advise to please consult a genetic expert before conception and also during pregnancy.

Hope this information will help.
Regards
Dr deepak Vaishnav
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Will Joubert Syndrome In The Older Child Affect The Siblings?

Dear user Thanks for your query at health care magic. Joubert syndrome is a autosomal recessive genetic disorder, that mean occur only when both parents carry the defective gene and these both defective gene transfer to child. but both parents also have one normal gene. if even one parents transfer the normal gene then this syndrome will not occur but that child will be carrier of the disease. The can have child with this syndrome if he marry to another carrier. your one child is affected that mean there is 25% chances that your another child can also be affected. so i advise to please consult a genetic expert before conception and also during pregnancy. Hope this information will help. Regards Dr deepak Vaishnav