This website provides information on patients with mutations in the KDELR2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KDELR2 gene is a multisystem disorder characterized by multiple bone fractures, short stature and skeletal dysplasia (bowing and shortening of upper and lower extremities, scoliosis, chest deformity).

Not all individuals with a mutation in the KDELR2 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 KDELR2 gene.

Dimitra Micha, Molecular geneticist/biologist, Amsterdam UMC, Amsterdam, The Netherlands, d.micha@amsterdamumc.nl

Alessandra Maugeri, Molecular geneticist, Amsterdam UMC, Amsterdam, The Netherlands, a.maugeri@amsterdamumc.nl

Mariet Elting, Clinical geneticist, Amsterdam UMC, Amsterdam, The Netherlands, m.elting@amsterdamumc.nl

Marelise Eekhoff, Endocrinologist, Amsterdam UMC, Amsterdam, The Netherlands, emw.eekhoff@amsterdamumc.nl