Growth Hormone Deficiency, Genetic

Genetic disorders of growth are numerous and include defects of the central nervous system, hypothalamus, pituitary, thyroid, skeleton, and other glands, tissues, or organs. These disorders are caused by genetic variations that interrupt different points of the hypothalamic–pituitary axis and other synthetic pathways that are required for growth. The resulting growth disorders can be classified by their (1) etiology (Mendelian, mode of inheritance, or chromosomal basis), (2) phenotype (isolated or multiple hormone deficiencies), (3) genetic variations of the different loci or alleles involved, and/or (4) associated biochemical findings. The growth disorders selected for inclusion are examples and are by no means a comprehensive list of all known genetic diseases that have some effect on growth. Information on each disorder is summarized and, for most of the disorders, more detailed information can be obtained through the electronic database Online Mendelian Inheritance in Man.