This website provides information on patients with mutations in the SHMT2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SHMT2 gene is called Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (OMIM #619121). It is a multisystem disorder characterized by intellectual disability, motor dysfunction in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Patients present also congenital microcephaly and dysmorphic features (long palpebral fissures, eversion of lateral third of lower eyelids, arched eyebrows, long eyelashes, thin upper lip, long philtrum, short fifth finger, fleshy pads at the tips of the fingers, mild 2-3 toe syndactyly and low-set thumbs).

Most of the reported cases had hypertrophic cardiomyopathy or atrial-septal defects, which tend to progress over time.

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 SHMT2 gene.

Aurora Pujol, MD, PhD, Hospital Duran i Reynals, L’Hospitalet de Llobregat, Spain, apujol@idibell.cat

Agusti Rodriguez-Palmero, MD, Germans Trias i Pujol University Hospital, Badalona, Spain, arodriguezpalmero.germanstrias@gencat.cat