About Schaaf-Yang Syndrome

Schaaf-Yang Syndrome is a genetic disorder caused by a disruption in the MAGEL2 gene in the 15th chromosome. Some of the characteristics of SYS include low muscle tone as an infant, infant feeding difficulties, joint contractures, sleep apnea, developmental delay, and a higher prevalence of intellectual disability and autism spectrum disorder. SYS was discovered in 2013 and there have been only a couple hundred confirmed cases worldwide since then.

SYS is similar to another genetic disorder known as Prader-Willi Syndrome (“PWS”). PWS is caused when the MAGEL2 and several additional genes on chromosome 15 are missing or inactivated. The following link will provide more detail on the similarities and differences between SYS and PWS.

Because of the similarities between SYS and PWS and the SYS community is small, research for SYS and MAGEL2 is supported by the Foundation for Prader-Willi Research (“FPWR”, fpwr.org). All net proceeds raised by Faith for Hayden are given directly to FPWR to fund SYS research.  The following link provides a recent research funded by FPWR for MAGEL2 and SYS projects.

Currently, no cure exists for Schaaf-Yang Syndrome. Faith for Hayden 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.

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.

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.