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

The syndrome caused by variants in ESAM is a neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity (NEDIHSS). Microcephaly, dysmorphic features, neuroimaging abnormalities (dilation of lateral ventricles, thin corpus callosum, abnormal myelination, and hydrocephalus), and retinal arterial tortuosity may also be present. This syndrome may have in uterus or perinatal onset and may be lethal either in prenatal or in early childhood age.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with ESAM variants.

Edoardo Errichiello, PhD, Department of Molecular Medicine, University of Pavia,  Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy, edoardo.errichiello@unipv.it

Mauro Lecca, PhD student, Department of Molecular Medicine, University of Pavia, Pavia, Italy, mauro.lecca01@universitadipavia.it