Disease_Has_Molecular_Abnormality Complete Trisomy 21 Syndrome C101222 CL435606 A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. Down Syndrome Complete Trisomy 21 Syndrome A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism. Disease or Syndrome NICHD Complete Trisomy 21 Syndrome Pediatric Endocrinology Terminology Down Syndrome Trisomy 21 NICHD Terminology Neonatal Research Network Terminology