Scientific Article 🇬🇧 Mentions KS

Undiagnosed but Not Forgotten: A Call to Action on Global Undiagnosed Day 2025

person Zhi Min Yap, Saumya Shekhar Jamuara, Helene Cederroth, Mikk Cederroth, Gareth Baynam, David A. Pearce; Rare/Elsevier

calendar_today Sep 24, 2026

Case report describing a 2025 hybrid international event for people with undiagnosed rare conditions. Experts reviewed 11 complex cases; 3 received likely diagnostic directions and suggested follow-up tests, but most remained without a diagnosis. Kleefstra syndrome was listed only as a possible differential diagnosis for one participant.