Eur J Med Genet 2021 May 27;64(8):104252. Epub 2021 May 27.
Department of Pediatrics, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel; Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. Developmental delay, feeding difficulties, joint contractures and a high prevalence of autism spectrum disorders are characteristic of the syndrome. Endocrine abnormalities include mostly various pituitary hormonal deficiencies, presenting as hypoglycemia in 48% of reported cases. Read More