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

The syndrome caused by mutations in the GUSB gene is a multisystem disorder characterized by multisystemic manifestations as coarse facial features, macrocephaly, coarse hair, gingival hypertrophy, skeletal abnormalities (dysostosis multiplex), short stature, joint stiffness, hepatosplenomegaly, heart valve disease, hearing loss, airway problems, recurrent ear infections, among other features. A large proportion of patients present hydrops fetalis, which in many cases leads to death before or shortly after birth. Most patients present cognitive impairment.

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

Roberto Giugliani, MD, PhD, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil, rgiugliani@hcpa.edu.br

Bibiana Mello de Oliveira, MD, PhD, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), Porto Alegre, Brazil, bibiana.oliveira@ufcspa.edu.br

Tamires Silva Alves, MD, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil, tsialves@hcpa.edu.br