Schaaf-Yang syndrome

Disease Overview

Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome. Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. This syndrome does not usually cause the high appetite seen in people with Prader-Willi syndrome. Schaaf-Yang syndrome is caused by a mutation in the MAGEL2 gene on chromosome 15. This syndrome is related to Prader-Willi syndrome because if MAGEL2 and several additional genes on chromosome 15 are missing or inactivated, then a person will develop Prader-Willi syndrome.[13639][13640] 

Synonyms

• Prader-Willi syndrome due to point mutation
• PWS due to point mutation
• Prader-Willi-like syndrome
• Prader-Willi syndrome due to a point mutation
• PWS due to a point mutation
• MAGEL2-related Prader-Willi-like syndrome
• MAGEL2-related PWLS