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How Long My Daughter Will Survive With Type 3 Pfeiffer Syndrome?
I ve recently married and my step daughter has type 3 pfeiffer syndrome. I continue to hear rumblings from the family that she has out lived her life expectancy. She turns 18 in two weeks. she is happy. but my husband worries about her. what can i expect?
Sat, 7 Nov 2020
Hi,
Type III Pfeiffer Syndrome is extremely rare and associated with an unusual gene mutation namely the FGFR2 gene. Generally speaking, and forgive me this in way meant to sound callous, the life expectancy for Type III is usually fatal in childhood. I cannot seem to determine exact numbers for you but it is exceptionally rare to have a patient live to the age of 18. Usually, kidney and lung problems develop and these cause physical decline. I am actually thinking that the diagnosis of Type III Pfeiffer Syndrome may not be correct as she has already exceeded her life expectancy by a considerable margin, I wonder if perhaps this may be Type I or Type II?
Take care. Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. David Girardi, Internal Medicine Specialist
Type III Pfeiffer Syndrome is extremely rare and associated with an unusual gene mutation namely the FGFR2 gene. Generally speaking, and forgive me this in way meant to sound callous, the life expectancy for Type III is usually fatal in childhood. I cannot seem to determine exact numbers for you but it is exceptionally rare to have a patient live to the age of 18. Usually, kidney and lung problems develop and these cause physical decline. I am actually thinking that the diagnosis of Type III Pfeiffer Syndrome may not be correct as she has already exceeded her life expectancy by a considerable margin, I wonder if perhaps this may be Type I or Type II?
Take care. Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. David Girardi, Internal Medicine Specialist
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