This website provides information on patients with mutations in the ASCC1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ASCC1 gene is a multisystem disorder characterized by
congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fractures of the long bones. Affected infants have difficulty of breathing and feeding and the prognosis is poor, as they often die in the first months or years of life.

Not all individuals with a mutation in the ASCC1 gene have all 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 ASCC1 gene.

Laura Bernardini, PhD, Mendel Institute – Casa Sollievo della Sofferenza Foundation, Rome, Italy, l.bernardini@css-mendel.it

Antonio Pizzuti, MD, PhD, Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy, antonio.pizzuti@uniroma1.it

Maria Grazia Giuffrida, PhD, Mendel Institute – Casa Sollievo della Sofferenza Foundation, Rome, Italy, m.giuffrida@css-mendel.it

Gioia Mastromoro, MD, Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy, gioia.mastromoro@uniroma1.it