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)
    

concept

Down's syndrome in two young men and a young woman. Three photographs.

A girl with Down's syndrome, sitting in front of an ornate wooden screen, holding a small posy of flowers. Photograph by Chas Marshall.

Young girl with Down's syndrome

Teenage girl with Down's syndrome

Side profile of a young woman with a misshapen head, wrapped in a tartan shawl, probably in a hospital. Photograph.

A mixed blessing.

John Langdon Down, 1828-1896 : a caring pioneer / O. Conor Ward.

Will.

The Mongol in our midst : a study of man and his three faces / by F.G. Crookshank.

Down Syndrome

Images

Catalogue

A mixed blessing.

John Langdon Down, 1828-1896 : a caring pioneer / O. Conor Ward.

Will.

The Mongol in our midst : a study of man and his three faces / by F.G. Crookshank.

Down's syndrome in two young men and a young woman. Three photographs.