This website provides information on patients with mutations in the FAM111B gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FAM111B gene is a multisystem disorder characterized by: early-onset poikiloderma, hypotrichosis and hypohidrosis; multiple contractures and diffuse progressive muscular weakness; pulmonary fibrosis in adulthood; exocrine pancreatic insufficiency; other features including liver impairment, hematologic abnormalities and relative short stature.

Not all individuals with a mutation in the FAM111B 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 FAM111B gene.

Sandra Mercier, MD, PhD, CHU Nantes, Service de génétique médicale, Nantes, France, sandra.mercier@chu-nantes.fr

Sébastien Küry, (e.g. MD, PhD) DVM, PhD, CHU Nantes, Service de génétique médicale, Nantes, France, sebastien.kury@chu-nantes.fr