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

The syndrome caused by mutations in the NEPRO gene is a multisystem disorder characterized by short stature, brachydactyly (short fingers and toes), skin laxity, joint hypermobility (excessive mobility of joints) and joint dislocations. Some of the affected individuals may have cognitive or motor delay.
Not all individuals with a mutation in the NEPRO 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 NEPRO gene.

Katta Mohan Girisha, MD, DM Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India, girish.katta@manipal.edu

Dhanya Lakshmi Narayanan, MD, DM, Medical Genetics, Kasturba Medical College, Manipal, India, dhanya.lakshmi@manipal.edu