Malan syndrome is an ultra-rare genetic disorder linked to mutations/deletions occurring at the NFIX gene. This gene is responsible for the production of the NFIX protein which plays an essential role in brain and muscle development. Malan syndrome manifests itself in different way but often include: tall and slender build, intellectual disability, vision and hearing impairment, speech limitations or absence, skeletal anomalies, behavioural challenges.
My family and I are proud members of the Malan Syndrome Foundation and the Associazione Assi Gulliver. A small donation to these associations can go a long way to support research into this rare genetic condition.
Matteo Bianconi 