Down's syndrome

Name(s): 
Congenital acromicria
Mongolism
Down syndrome
Trisomy
Nature 
It is an inherited disorder characterized by a redundant third (or more) copy of the 21st chromosome. The extra chromosome material causes disturbances of development that result in a distinctive physical appearance (small round head, flat face, large tongue, epicanthic folds, simian lines), cluster of medical symptoms, an increased risk for various types of malformations, increased sensitivity to infections, increased risk of leukaemia, some degree of mental retardation, premature ageing and death. Cardiac malformations are very common; also intestinal malformations. Almost all Down syndrome children have problems with receptive and expressive language.
Incidence 
The chances of a woman having a baby with Down syndrome are one in 365 at 35 years, one in 109 at 40 years and one in 40 at 44 years of age. High paternal age is also implicated (some of the trisomies are also of paternal origin). There does appear to be an increasing incidence also for teenage mothers. Chromosomal translocation is also responsible for a small proportion of the genetic errors, about half of which are inherited. The rate of Down syndrome in a population is affected by the maternal age distribution and by prenatal diagnosis followed by elective abortion. The crude rates around the world are around 13 births per 10,000, but the variation is relatively large.
Broader 
Hereditary diseases
Congenital syndromes affecting multiple systems
Aggravates 
Mental deficiency in children
Developmental receptive language disorder
Developmental expressive language disorder
Congenital anomalies of cranium and face bones
Aggravated by 
Neurosis
Reduced by 
Dangerous foetal genetic testing
Organization(s) 
Ibero-American Down Syndrome Association
European Down's Syndrome Association
Down Syndrome International
Value(s) 
Syndrome
Reference(s) 
Byrne, Elizabeth; Cunningham, Cliff and Sloper, Patricia: Families and Their Children with Down's Syndrome: one feature in common
Gibson, D: Down's Syndrome: the psychology of mongolism
Pueschel and Steinberg: Down Syndrome: a comprehensive bibliography
Dmitriev, Val and Oelwein, Pat: Advances in Down Syndrome
Gath, Ann: Down's Syndrome and the Family: the early years
Type 
(E) Emanations of other problems