Rett Syndrome (RS) is a genetic developmental disorder which occurs almost exclusively in females. It was origionally noted by Dr. Andreas Rett in 1966, after whom the disorder was named. RS appears in an estimated 1 out of every 15,000 female births around the world today, regardless of race and seemingly unrelated to any inheritable factor.
RS is thought to be caused by mutations in a gene transmitted as an X-linked dominance trait. It is the first human disease that has been found which is caused by defects in a protein. The gene known as methyl-CpG-binding protein 2 (or MeCP2), contains instructions to make that protein, which is vital during the brain's developmental stages. The protein directs the production of certain other proteins by telling their genes when to stop producing. This needs to occur at critical times during development, or the genes remain active at inappropriate times and affect the nerve cells.
Because so few male cases of RS or RS-like symptoms have been recorded, researchers hypothesize that the defect is on the X chromosome. As girls have two X chromosomes, and only one is active in any given cell, a girl with a defective MeCP2 gene would only have half of her cells effected. Some of her brain cells would use the healthy copy and function normally.
However, because boys have only one X-chromosome to draw their genes from, any mutation is far more likely to be fatal, because none of their cells will receive the protein MeCP2. They lack the back-up copy that ensures the healthy development of a certain amount of cells. Researchers believe that the vast majority of males with this condition die shortly after birth instead of living several decades as many females do.
Rett's Syndrome is a type of nervous disease. It causes development to reverse, especially when it comes to the use of the hands and language.
The Koro syndrome is a culture-specific syndrome. The individual with Koro syndrome has an overpowering belief that his or her genitals are retracting and disappearing.
Down syndrome
You may be thinking of the Dorothy Lack syndrome which many people call the White Coat Syndrome.
is William syndrome caused by a mutation
Restless Leg Syndrome (RLS) is also known in the medical community as Ekbom Syndrome and Wittmaack-Ekbom Syndrome. Anxietas Tiblarum and Anxietas Tibialis are also medical names for Restless Leg Syndrome.
Rhett Butler.
He's a Blockade runner
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
Stockholm syndrome.
The Koro syndrome is a culture-specific syndrome. The individual with Koro syndrome has an overpowering belief that his or her genitals are retracting and disappearing.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
Cushing's Syndrome
Disorders, such as Down's Syndrome, are caused by nondisjunction.
yes there is.
what is kinefelter syndrome?
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.