A groundbreaking new publication has been released, aiming to improve patient care for individuals with Kleefstra syndrome worldwide. The first clinical guideline for the syndrome, developed by an international consortium under the umbrella of the ERN-ITHACA, is now available for use in clinical practice. Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder characterized by […]

The16th Introductory Skeletal Dysplasias Course (Reggio Emilia, June 29 – July 3, 2026) is now open to applications! The Skeletal Dysplasia Course is intended to provide an introduction to the clinical and radiographic diagnostics and clinical management of skeletal dysplasias, as well as to the molecular bases and therapeutic approaches. The Course is conceived for […]

We are pleased to announce that the 8th European FASD Conference will be held in beautiful Amiens, France, from 13th to 16th September 2026. The conference, held in Europe every two years, is the main event on Fetal Alcohol Spectrum Disorders (FASD), and a great opportunity to put FASD in the spotlight. EUFASD 2026 is organized by Vivre Avec Le SAF in partnership […]