About SYS

Currently, there is no cure for Schaaf-Yang syndrome and treatment is based on managing the symptoms and providing supportive care. This may include physical therapy, speech therapy, behavioral interventions, and medication for specific symptoms. Genetic counseling may also be recommended for affected individuals and their families to discuss the risk of passing the condition on to future generations.

The Foundation for Prader-Willi Research is interested in advancing research toward understanding and treating specific aspects of the syndrome, with the goal of an eventual cure.

Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SYS) are both rare genetic disorders that affect various aspects of development, including intellectual ability, physical growth, and behavior. However, there are some differences between the two conditions, as well as some similarities.

Similarities:

• Both PWS and SYS are caused by mutations or deletions in the same region of chromosome 15q11-13.
• Both conditions can cause developmental delay, intellectual disability, speech and language difficulties, and behavioral problems.
• Both PWS and SYS may be associated with low muscle tone (hypotonia), feeding difficulties, and sleep disturbances.
• Both conditions can have an impact on physical growth and may cause short stature.

Differences:

• The genetic mutations that cause PWS and SYS are different. PWS is caused by the loss of function of paternal genes in the 15q11-13 region, whereas SYS is caused by mutations in the MAGEL2 gene in the same region.
• Nearly all individuals with SYS have joint contractures.
• Autism spectrum disorder is more common in individuals with SYS than PWS.
• PWS is commonly associated with hyperphagia (an insatiable appetite) and obesity, while this is not a hallmark feature of SYS.
  
  

Dr. Christian Schaaf and his group, in collaboration with Dr. Jennifer Miller, have published the results of an FPWR-funded study examining the clinical similarities and differences between Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS). Highlights from the paper are discussed in our blog: Study Compares Schaaf-Yang and Prader-Willi Syndromes.

The adult phenotype for a person with Schaaf-Yang syndrome (SYS) is not well-defined due to the rarity of the condition and the limited number of cases that have been reported. However, based on available data, it appears that individuals with SYS may continue to experience a range of physical, developmental, and behavioral challenges into adulthood.

Developmental and intellectual disabilities associated with SYS persist into adulthood, and individuals with SYS may continue to experience difficulties with speech and language, learning, and social interactions. Behavioral issues such as anxiety, obsessive-compulsive tendencies, and autism spectrum disorders may also be present in some individuals with SYS, and these challenges may continue into adulthood.

In general, the adult phenotype for a person with SYS is likely to be highly variable and depend on a range of individual factors, including the severity of the genetic mutation, the presence of co-occurring health conditions, and the quality of support and interventions that the individual receives.

You can read more in the publication: The Adult Phenotype of Schaaf-Yang Syndrome (published in 2020).

Recorded presentations from our SYS Family Conferences are available on our YouTube channel.

Watch presentations from Dr. Christian Schaaf, Dr. Ryan Potts, Dr. Rachel Wevrick, and others.  Learn more about the SYS research landscape, next steps in SYS research, and the clinical aspects of SYS in these conference presentations.

Our foundation relies on volunteers, like you, to help us accelerate our programs. We welcome you to join our team and get involved as we work together to eliminate the challenges of Schaaf-Yang and Prader-Willi syndromes.

• Join the SYS Patient Registry (coming soon)
• Subscribe to our newsletter and watch for research volunteer opportunities 
• Fundraise for SYS Research
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