This website provides information on patients with mutations in the LIFR gene, including clinical data, molecular data, management and research options.
Stuve-Wiedemann syndrome (SWS) is a rare autosomal recessive multisystem disorder characterized by congenital bone dysplasia, dysmorphic features and autonomous dysregulation. It is caused by biallelic loss-of-function variants in the LIFR gene, although there are some patients with a clinical diagnosis without pathogenic LIFR variants, suggesting the possibility of genetic heterogeneity.
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 LIFR gene.
Fernando Santos-Simarro, MD, PhD, Clinical Genetics, Hospital Universitari Son Espases, Palma de Mallorca, Spain, firstname.lastname@example.org
Sofía Maritza Siccha Arancibia, MD, Clinical Genetics, Hospital Universitari Son Espases, Palma de Mallorca, Spain, email@example.com