This website provides information on patients with mutations in the MAGEL2 gene, including clinical data, molecular data, management and research options.

Schaaf-Yang syndrome, caused by mutations in the MAGEL2 gene, is a multisystem disorder characterized by contractures of the small finger joints, developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder, among others. The phenotypic spectrum of Schaaf-Yang syndrome ranges from fetal akinesia to individuals with neurobehavioral disease and contractures of the small finger joints. Not all individuals with a mutation in the MAGEL2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MAGEL2 gene.

Christian P. Schaaf, MD, PhD, FACMG; Molecular and Human Genetics, Translational Biology and Molecular Medicine, Baylor College of Medicine; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital; Houston, Texas; USA; schaaf@bcm.edu

Michael D. Fountain; Translational Biology and Molecular Medicine, Molecular and Human Genetics, Baylor College of Medicine; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital; Houston, Texas; USA; mfountai@bcm.edu

Megan Rech; MD, PhD, Research Coordinator, Baylor College of Medicine, Houston, Texas, USA; rech@bcm.edu