This website provides information on patients with pathogenic variants in the B4GALT7 gene, including clinical data, molecular data, management and research options.

The phenotype related to pathogenic variants in the B4GALT7 gene is characterized by short stature, hypotonia, joint hypermobility especially of the hands, soft doughy skin, skeletal features and a suggestive face with prominent eyes. The most outstanding feature is the combination of severe connective tissue involvement, often manifesting in newborns and infants, with skeletal dysplasia that becomes apparent during childhood.
Some features such as developmental delay, radioulnar synostosis and ocular anomalies may also occur in individuals with B4GALT7 pathogenic variants.

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 B4GALT7 gene.

Marzia Pollazzon, MD, Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy, marzia.pollazzon@ausl.re.it

Stefano Giuseppe Caraffi, PhD, Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy, stefanogiuseppe.caraffi@ausl.re.it

Livia Garavelli, MD, Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy, livia.garavelli@ausl.re.it

Andrea Superti-Furga, Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland, asuperti@unil.ch