Schaaf-Yang Syndrome

Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by disruptions in the MAGEL2 gene on the 15th chromosome. Characteristics of SYS include low muscle tone in infancy, feeding difficulties, joint contractures, sleep apnea, developmental delay, and a higher prevalence of intellectual disability and autism spectrum disorder. SYS was identified in 2013, and since then, only a few hundred cases have been confirmed worldwide.

SYS shares similarities with another genetic disorder called Prader-Willi Syndrome (PWS), which results from the absence or inactivation of the MAGEL2 gene and several other genes on chromosome 15. More details on the similarities and differences between SYS and PWS can be found at the following link.

Due to these similarities and the small SYS community, research on SYS and MAGEL2 is supported by the Foundation for Prader-Willi Research (FPWR) at fpwr.org. All net proceeds raised by our fundraising efforts are directed to FPWR to finance research projects related to SYS and MAGEL2. For more information on recent research funded by FPWR for MAGEL2 and SYS projects, please follow this link.

Is there a cure for Schaaf-Yang Syndrome?

Currently, no cure exists for Schaaf-Yang Syndrome. Love for Landon exists to raise money to fund research toward further understanding and treating certain aspects of the syndrome. The ultimate goal is to find a cure.

How is Schaaf-Yang Syndrome diagnosed?

Schaaf-Yang Syndrome may be confirmed through sequencing the MAGEL2 gene or through whole exome sequencing. Most commonly, Schaaf-Yang Syndrome mutations in the MAGEL2 gene are considered de novo (a new mutation event and not inherited), but can also be inherited through a mutation in a silenced MAGEL2 gene from the father.

Where can I learn more about Schaaf-Yang Syndrome?

Links to publications below will explain more about Schaaf-Yang Syndrome and related research.  You can also watch presentations from the 2020 FPWR Schaaf-Yang Syndrome Family Conference in the following link.