mental retardation congenital chromosomal disease syndrome Down's syndrome GeneRIF:12895444 MSH:D004314 GeneRIF:14678752 GeneRIF:12070657 GeneRIF:11920898 GeneRIF:12796830 GeneRIF:11810642 A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 GeneRIF:12923861 GeneRIF:11771735 GeneRIF:11771736 NCIt:C2993 GeneRIF:12393509 GeneRIF:12628594 GeneRIF:15661359 URI: http://www.ebi.ac.uk/cellline#Down_syndrome Down's syndrome - trisomy 21 GeneRIF:11771738 Trisomy 21 Syndrome GeneRIF:11331941 GeneRIF:15068251 GeneRIF:12771203 GeneRIF:12145461 GeneRIF:12400059 GeneRIF:11771745 T21 - Trisomy 21 GeneRIF:11771746 James Malone GeneRIF:15103709 GeneRIF:15068254 GeneRIF:15255950 GeneRIF:11771749 GeneRIF:12172547 GeneRIF:14512321 Trisomy 21, Mitotic Nondisjunction GeneRIF:12080391 GeneRIF:12943237 GeneRIF:12515899 GeneRIF:11824616 GeneRIF:14615042 Mongolism SNOMEDCT:254263008 Down's syndrome NOS Down syndrome GeneRIF:12200143 GeneRIF:14701734 Trisomy 21 NOS GeneRIF:12957488 GeneRIF:12586620 GeneRIF:11565556 GeneRIF:16231093 G Trisomy GeneRIF:16274669 Trisomy 21, Meiotic Nondisjunction GeneRIF:15082224 GeneRIF:15804423 DOID:14250 GeneRIF:12109594 GeneRIF:15169762 ICD9:758.0 Trisomy 21 GeneRIF:12576745 Tomasz Adamusiak GeneRIF:12931206 GeneRIF:11856873 Down's syndrome NOS (disorder) A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Partial Trisomy 21 Down Syndrome NIFSTD:nlx_dys_20090502 GeneRIF:15820773 GeneRIF:15358155 GeneRIF:14636651 GeneRIF:12650976 GeneRIF:12359327 GeneRIF:11879646 GeneRIF:14738882 Down's Syndrome GeneRIF:12529699 GeneRIF:15068241 GeneRIF:15184603 GeneRIF:11771750 SNOMEDCT:41040004 GeneRIF:12469345 GeneRIF:11771755 GeneRIF:11771757 GeneRIF:11771758 GeneRIF:11771751 GeneRIF:12499044 GeneRIF:12032275 GeneRIF:15068242 GeneRIF:15068243 GeneRIF:15068244 GeneRIF:15068245 GeneRIF:12816863 GeneRIF:15694837 GeneRIF:12459318 GeneRIF:15946822 GeneRIF:16222229 A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia) GeneRIF:14656875 GeneRIF:15068239 Complete trisomy 21 syndrome GeneRIF:11771762 GeneRIF:11771764 Complete trisomy 21 syndrome (disorder) GeneRIF:12767918 GeneRIF:15068237