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Disease Down Syndrome

Name Down Syndrome
Synonyms 47,XX,+21 | 47,XY,+21 | DCR, INCLUDED | Down's Syndrome | Downs Syndrome | DOWN SYNDROME CRITICAL REGION, INCLUDED | Down Syndrome, Partial Trisomy 21 | DSCR, INCLUDED | LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED | Mongolism | Partial Trisomy 21 Down Syndrome | Syndrome, Down | Syndrome, Down's | TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED | Trisomy 21 | TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION, INCLUDED | Trisomy 21, Meiotic Nondisjunction | Trisomy 21, Mitotic Nondisjunction | Trisomy G
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D004314
OMIM® ID 190685
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Down Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Down Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Down Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Down Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Down Syndrome Has associated chemicals Has associated genes
  5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR Has associated genes
  BETA-AMINO ACIDS, RENAL TRANSPORT OF Has associated genes
  Down Syndrome Critical Region
  Leukemia, Megakaryoblastic, of Down Syndrome Has associated chemicals Has associated genes
  Myeloproliferative Syndrome, Transient Has associated chemicals Has associated genes
  Transient Myeloproliferative Disorder of Down Syndrome Has associated chemicals Has associated genes