Genetics of growth retardation.
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 different loci or alleles involved, and/or 4) the associated biochemical findings. The growth disorders selected for inclusion here 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, more detailed information can be obtained through the electronic database Online Mendelian Inheritance in Man (OMIM) which is available at http://www.ncbi.nlm.nih.gov/Omim.
Phillips
John A
JA
Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578, USA. john.a.phillips@vanderbilt.edu
D030541:Databases, Genetic; D005069:Evaluation Studies as Topic; D006130:Growth Disorders / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D016247:Information Storage and Retrieval; D014481:United States