Disease or Syndrome
Down syndrome
Down syn·drome
Subclass of:
Congenital chromosomal disease;
Multiple congenital anomalies;
Intellectual Disability
Also called:
Trisomy 21; Down's Syndrome; Trisomy G
Definitions related to down syndrome:
-
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome.NCI ThesaurusU.S. National Cancer Institute, 2021
-
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)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
-
Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human DevelopmentMedlinePlusU.S. National Library of Medicine, 2021
-
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 mental retardation.CRISP ThesaurusNational Institutes of Health, 2006
-
Down syndrome is an anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies and abnormal development and confirmed by cytogenetic analysis. Management depends on specific manifestations and anomalies.Merck & Co., Inc., 2020
-
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is characterized by intellectual disability , dysmorphic facial features, and other distinctive phenotypic traits.WebMD, 2019
-
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.Mayo Foundation for Medical Education and Research
-
Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns...National Center for Advancing Translational Sciences
-
Down syndrome (DS), or trisomy 21, is the most common genetic form of intellectual disability, occurring in 1 in 691 births. In addition to having characteristic physical features, short stature, and hypotonia, individuals with DS have a distinctive cognitive and behavioral profile. They also have a higher frequency of associated medical...Athenahealth, Inc., 2019
-
Down syndrome, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21. The affected individual may inherit an extra part of chromosome 21 or an entire extra copy of chromosome 21, a condition known as trisomy 21. British physician John Langdon...Encyclopedia Britannica, Inc., 2020
Return to OpenMD Medical Dictionary
> D
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.