Discover and read the best of Twitter Threads about #genitopatellarsyndrome
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THREAD:
I'm pleased that today is #RareDiseaseDay as I'd like to raise awareness of something close to my ❤️ - a condition called "Genitopatellar Syndrome".
Chances are you haven't heard of it as only a handful of people in the world have been officially diagnosed with it. /1
I'm pleased that today is #RareDiseaseDay as I'd like to raise awareness of something close to my ❤️ - a condition called "Genitopatellar Syndrome".
Chances are you haven't heard of it as only a handful of people in the world have been officially diagnosed with it. /1
Sadly, one of them is my three-year-old niece. She's a sweet, smiley little girl who brings joy to all who know her. But she has also suffered multiple health problems since birth. These include blindness, club feet, hole in the ❤️, a missing corpus callosum, & kidney issues. /2
This #RareDisease is caused by a mutation of the KAT6B gene. Not much is known about it as it was only identified as the cause a few years ago. This link provides a good overall summary, though I believe the gene can mutate in different ways dovemed.com/diseases-condi… /3
