ESAM-associated condition is a rare disease trait with antenatal/neonatal onset characterized by neurodevelopmental delay, intracranial haemorrhage, seizures, and spasticity (NEDIHSS). Other features are represented by microcephaly, dysmorphic features, neuroimaging abnormalities (dilation of lateral ventricles, thin corpus callosum, abnormal myelination, and hydrocephalus), and retinal arterial tortuosity. This condition is caused by bi-allelic loss-of-function (LoF) variant alleles of ESAM which encodes an endothelial cell adhesion molecule. Thus, this novel disease trait may be included among the emerging group of diseases known as “tightjunctionopathies”.
ESAM