Spondyloepiphyseal dysplasias in the structure of idiopathic stunting in children

Hereditary skeletal dysplasias (HSD) are primary growth disorders; occur with a frequency of 1: 5000 newborns; characterized by wide phenotypic heterogeneity. Diagnosis of НSD is based on clinical symptoms (dyspropotion of body segments), radiographic characteristics of bone mineralization, maturation and morphology, and molecular genetic studies. Treatment of this group of patients must be multidisciplinary, since it affects not only skeleton. The role of the pediatric endocrinologist is to assess the growth potential of these patients and suggest the most optimal treatment. The review provides data on various types of spondyloepi(meta)physeal dysplasias (SE(M)D), a large heterogeneous group of HSD associated with short stature. Clinical manifestations of SEMD include short stature, disorders in development of spondyles, epiphyses and metaphyses of tubular bones, advanced bone age, etc. It is necessary to differentiate the most common causes of short stature from genetic skeletal diseases, which are characterized by wide phenotypic heterogeneity and require careful examination. In this review, we analyse the literature data on spondyloepiphyseal dysplasia, as one of the causes of idiopathic short stature in children.