Human Phenome based on traditional Chinese medicine--a solution to congenital syndromology

The occurrence of many congenital syndromes has long been an enigma. Clinically, the phenotype of any given genetic defect usually varies to some extent, whilst, pathogenetically, features within each syndrome are probably interconnected, albeit by largely unknown mechanisms. Through its unique theories such as the Jing-Mai (variously translated as the Channels, Vessels or Meridians), Zang-Fu (the Yin and Yang internal organs) and Wu-Xing (translated as the Five-Phase Correspondence or Five-Element theory), traditional Chinese medicine (TCM) seems to have comprehensively summarized the makeup of the human phenotypes. By combining the above TCM theories with modem medical knowledge, the intrinsic mechanisms between various aspects of the phenotypic makeup of the human individual, i.e. the Human Phenome, may be deduced. Analysis of congenital syndromes in light of the Human Phenome seems to suggest that various genetic defects may cause diseases in a similar fashion; i.e. primarily with structural abnormalities distributed along the four Jing-Mai connected with the Kidneys (midline defects) as well as "Marrow" aberrations (anomalies of hematology/immunology, endocrine, central nervous system and the bones). The derived Human Phenome may thereby enable a better understanding of such conditions and provide a model for the study of multigenic traits. On the other hand, blind spots of clinical observation and unknown aspects of human nature, e.g. circuits formed by the JingMai, symmetries of the Jing-Mai and Zang-Fu, and correspondences between body physiques, spiritual factors and the external world may also be deduced. The TCM-based Human Phenome may thereby offer a fresh view for genotype-phenotype correlations, insights into genedevelopment mechanisms, as well as potential directions for the development of new treatments.