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Fragile X syndrome (FXS) is a genetic ... prominent characteristics of the syndrome may include ... A 2013 review stated that life expectancy for FXS was 12 years ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.
Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. [1]
Less commonly known genetically determined neurodevelopmental disorders include Fragile X syndrome. Fragile X syndrome was first described in 1943 by Martin and Bell, studying persons with family history of sex-linked "mental defects". [43] Rett syndrome, another X-linked disorder, produces severe functional limitations. [44] Williams syndrome ...
The syndrome was first described in 1961 by New Zealander John C. P. Williams. [5] [6] Williams syndrome affects between one in 20,000 and one in 7,500 people at birth. [4] Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease. [3]
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.