Malan Syndrome awareness: Locatelli calls for research and early diagnosis

On International Malan Syndrome Day, the national association ASSI Gulliver highlighted the need for increased awareness regarding this ultra-rare genetic condition. Malan syndrome, also known as Sotos 2, is caused by a variant of the NFIX gene and is estimated to affect fewer than one in a million people.

In an interview with Assi TV, Italy’s Minister for Disabilities, Alessandra Locatelli, emphasized the critical importance of investing in research, early diagnosis, and family support. She noted that the goal is to ensure no family faces the diagnostic journey alone. Locatelli also discussed the ‘Life Project’ (Progetto di Vita), describing it as a cultural shift toward personalized paths that foster autonomy and full citizenship for individuals with disabilities.