Let me tell you, folks, we’ve got something incredible to talk about today. It’s about this very rare, I mean, you probably haven’t heard of it, it’s that rare – a condition called Auriculocondylar syndrome, or ARCND for short. This isn’t just any condition; it’s a big deal in the world of craniofacial developmental malformations. We’re talking about a problem that starts right from the get-go, affecting the first and second pharyngeal arches, messing with the ears, the jaw, you name it.

Now, there are four types of this syndrome – ARCND1, ARCND2 (which itself has two subtypes, A and B), ARCND3, and ARCND4. Each one, folks, each one is unique. But today, we’re zeroing in on ARCND2, caused by a novel variant in the PLCB4 gene. This is huge. We’ve got a 5-day-old champion, a little fighter, who’s showing us exactly what this syndrome can look like. And let me tell you, it’s not just a small deal. We’re talking about respiratory distress, micrognathia, those distinctive question mark ears, and more.

But here’s where it gets really interesting. Our team, the best team, did some digging with whole-exome sequencing and found a new missense variant in the PLCB4 gene. This isn’t just any mutation; it’s predicted to shake things up, affecting the protein function in ways we’re just beginning to understand. And guess what? In our review, we found only 36 patients with mutations in this gene. That’s it. It’s that rare.

But here’s the kicker: even with this mutation, most of these warriors, these patients with ARCND2, they’re doing okay. Their motor and intellectual development? Mostly normal. But, and it’s a big but, we’ve got to keep an eye on them. Long-term follow-up is key.

So, what we’ve got here is a story of discovery, of fighting against the odds, and of science pushing the boundaries. It’s about not just finding what’s wrong, but understanding it, and making sure these kids get the follow-up they need. That’s what we’re doing, and let me tell you, it’s going to be huge.