Related MeSH Hierarchy (4)
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Down Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Down Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Down Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Down Syndrome
Description
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 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) MeSH
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Phase 4 Indicated Drugs (2)
Phase 3 Indicated Drugs (24)
Phase 2 Indicated Drugs (17)
Phase 1 Indicated Drugs (2)
Organization Involved with Phase 4 Indications (3)
Organization Involved with Phase 3 Indications (23)
Organization Involved with Phase 2 Indications (25)
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Institut Hospital del Mar d'Investigacions Mèdiques
National Heart, Lung, and Blood Institute (NHLBI)
National Hospital Organisation Nagoya Medical Centre
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (13)
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UMLS Data
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