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Downov syndróm
Č. záznamu d004314 Dátum 06.06.2025 Typ M - MESH Tematický termín Downov syndróm Iný termín Angličtina (Pseudonym) Mongolism
Angličtina (Pseudonym) Trisomy 21
Slovenčina (Pseudonym) Downova choroba
Slovenčina (Pseudonym) mongolizmus
Slovenčina (Pseudonym) trizómia 21
MDT C10.597.606.360.220C16.131.077.327C16.131.260.260C16.320.180.260 Poznámka 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) 
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