Dysmorphic syndromes with demonstrable biochemical abnormalities.
Many inborn errors of metabolism are associated with dysmorphic manifestations. In this review, we have attempted to correlate the dysmorphic features with the underlying metabolic defect or its consequences. Most of the defects which we have discussed affect the synthesis or degradation of macromolecules (for example, collagen, elastin, bone mineral, proteoglycans, glycoproteins, and triglycerides). Such defects may affect either a single enzyme or multiple enzymes in specific organelles, such as lysosomes or peroxisomes, or they may affect hormonal control of synthesis and degradation. Examples are also included of defects affecting the catabolism of simple molecules when accumulating metabolites have a secondary effect on macromolecules, as in homocystinuria. In a number of instances, however, the correlation between the biochemical abnormality and the dysmorphic features are not understood. Ultimately, all dysmorphic syndromes will be attributable to a biochemical defect or its effects. The aim of this overview is to provide an insight into the relationship between the two at the present time.
D000013:Congenital Abnormalities / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D008830:Microbodies / Q000378:metabolism; D013577:Syndrome