Syndrome delineation. 2. Inborn errors of metabolism, deformities, and variant familial developmental patterns.
Classification of genetic disorders and birth defects into the following five categories aids in efficient patient evaluation, prognostic counseling, and therapy: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. These categories highlight different pathogenetic aspects of disease processes. Mixed disorders with manifestations from the different categories may be of special significance.
D000015:Abnormalities, Multiple / Q000235:genetics; D000650:Amnion; D001176:Arthrogryposis / Q000235:genetics; D000013:Congenital Abnormalities / Q000145:classification* / Q000209:etiology / Q000235:genetics; D003251:Constriction, Pathologic; D005145:Face / Q000002:abnormalities; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008661:Metabolism, Inborn Errors / Q000145:classification* / Q000150:complications / Q000235:genetics; D009123:Muscle Hypotonia / Q000151:congenital; D013577:Syndrome