Diana Miclea

By Diana Miclea

Growth in height is a multifactorial process in which 80–90% of the contributing factors are genetic. The genes that determine the appropriate morphology and function of the skeletal and endocrinal system are the most being involved. Short stature is a clinical sign noted in conditions that intrinsically affect the growth plate, such as skeletal dysplasia, or in genetic syndromes such as Turner's, Silver‐Russell, Noonan's, Cornelia de Lange's, Rubinstein‐Taybi and Prader‐Willi syndrome. Also, some endocrine diseases or chronic disorders can lead to change growth in the plate physiology, leading to short stature; the endocrine disorders are often genetically determined. Another category is idiopathic short stature, which is the most important in terms of frequency, and even though in this case, the aetiology is not proven; it seems that the genetic factors have the main role. In this chapter, the genetic syndromes with primary effect on growth are presented and the principal aim is to highlight the main clinical signs associated with short stature, which can lead to an easier clinical diagnosis of a genetic disease that mainly influence growth, thus facilitating the selection of the genetic test needed for the etiologic diagnosis in short stature.

Part of the book: Restricted Growth