Would you think, looking at this little baby, that she had a rare genetic syndrome? I’m guessing not. However, ask any parent of a PACS1 child and I bet they could see the features of PACS1 here in her face. Her little rounded nasal tip, her thin upper lip, wide spaced eyes and low setContinue reading “Rare Disease Day 2021”
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PACS1 - a rare genetic syndrome 