Research 🇪🇸 Mentions KS

Spain: The impact of being ill without a diagnosis: “There is nothing worse than not knowing what you have”

person Cinthya Martínez Lorenzo, La Voz de Galicia

calendar_today Sep 6, 2026

This Spanish news article describes the long “diagnostic odyssey” faced by many rare-disease families, including genomic testing, phenotype coding, multidisciplinary rare-disease units in Galicia, and Spain UDP. It reports that Spain UDP diagnoses 47.6% of accepted cases and mentions a Kleefstra syndrome-related case.