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Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [9] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
Most children with progeria appear normal at birth and during early infancy. [11] Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become ...
approximately 1 in 1,000 (female) Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they ...
Stephanie Turner (1993 [31] – 2017 [32]) third oldest in the US with the same condition, and the first ever to give birth. Turner's two children do not have the disease. She died on March 3, 2017, at age 23. [33] Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, is 10 years old as of January 2024. [34]
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1] It is found to be linked to the X chromosome and caused by a mutation in ...
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]
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination), [4] the cause is still unknown. The condition manifests as a set ...