We're raising awareness of MSL3 Syndrome and supporting the families affected by it.

A Strong and Dedicated Community

The MSL3 Syndrome Foundation’s mission is to raise global awareness about the ultra-rare MSL3 (Basilicata-Akhtar) Syndrome. Our team connects with families across the world and offers support and resources to navigate this challenging genetic disorder, and we raise funds in support of research and treatment of MSL3 Syndrome.

Understanding MSL3 Syndrome

Our work is centered around supporting the families affected by this ultra-rare disorder.

Our MSL3 Community

Get to know Jack and the special impact he’s had on those who know him and beyond. His mom shares their story:


“His genuine laugh is contagious and his sensitive spirit and gentle persuasion are impossible not to love. From playing with cars, singing and dancing to his favorite bops or goofing around with his sister/best friend, you’ll almost always find Jack with a smile. Even as he recovers from his (2nd) femur fracture, he’s remained positive and strong. This kid never quits.” – Sarah Medley, Jack’s Mom

Our Impact

0 families supported in our community
0 countries represented
0 research studies on the MSL3 gene
See Our Impact