Genetics for the pediatric endocrinologists – 2 Primordial short stature in children and adolescents

Abstract

Primordial short stature (PSS) is an extremely rare group of monogenic disorders characterized by profound global growth failure commencing in the fetal life and continuing postnatally for the rest of the life. It is suspected when there is an extreme degree of proportionate short stature and global growth failure with or without microcephaly, and without any evidence of known skeletal dysplasia. The cardinal features of PSS include severe intrauterine and postnatal growth failure, severe postnatal short stature, primary microcephaly, characteristic facial features, and variable intellectual disability. The most common genetic etiology is monogenic except for Silver–Russell syndrome, where an epigenetic mechanism is a predominant cause of primordial dwarfism. This review demonstrates a holistic approach to the diagnosis and management of PSS in children and adolescents.