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Down Syndrome (Down's Syndrome)

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, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. 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)
Also Known As:
Down's Syndrome; Trisomy 21; Downs Syndrome; Syndrome, Down; Trisomy 21, Meiotic Nondisjunction; Mongolism; 47,XX,+21; 47,XY,+21; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome; Trisomy 21, Mitotic Nondisjunction; Trisomy G; Syndrome, Down's
Networked: 7927 relevant articles (209 outcomes, 1004 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Alzheimer Disease (Alzheimer's Disease)
2. Trisomy 18 Syndrome
3. Dementia (Dementias)
4. Chromosome Aberrations (Chromosome Abnormalities)
5. Aneuploidy (Aneuploid)

Experts

1. Lubec, G: 61 articles (08/2008 - 09/2000)
2. Nicolaides, K H: 53 articles (01/2021 - 04/2000)
3. Head, Elizabeth: 48 articles (10/2022 - 07/2002)
4. Spencer, K: 45 articles (09/2015 - 02/2000)
5. Nicolaides, Kypros H: 37 articles (06/2022 - 04/2003)
6. Lott, Ira T: 30 articles (10/2022 - 07/2002)
7. Dierssen, Mara: 30 articles (01/2022 - 11/2005)
8. Schupf, Nicole: 29 articles (10/2022 - 05/2002)
9. Bartesaghi, Renata: 29 articles (07/2022 - 04/2006)
10. Handen, Benjamin L: 27 articles (01/2022 - 08/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Down Syndrome:
1. Biomarkers (Surrogate Marker)IBA
2. Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric
3. alpha-Fetoproteins (alpha-Fetoprotein)IBA
4. Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA
5. Cell-Free Nucleic AcidsIBA
6. DNA (Deoxyribonucleic Acid)IBA
7. dichlorobis(azomycin)platinum IIIBA
8. AntioxidantsIBA
9. Donepezil (Aricept)FDA LinkGeneric
10. Bosentan (Tracleer)FDA Link

Therapies and Procedures

1. Therapeutics
2. Drug Therapy (Chemotherapy)
3. Adenoidectomy
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Physical Therapy Modalities (Physical Therapy Technique)