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Rubenstein-Taybi Syndrome Essay

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Rubenstein-Taybi Syndrome
      Also Known as RTS this disease is caused by a mutation in the CREBBP and EP300. The CREBBP gene is responsible for making a protein that regulates cell growth and division, its needed for normal fetal development. The EP300 gene plays much of the same role as the CREBBP gene, but is not as often the cause of Rubenstein-Taybi   Syndrome. The EP300 gene, unlike the CREBBP gene controls protein development before and after birth. In many of the cases of   Rubenstein-Tabi   Syndrome no mutation is detected in either the CREBBP or the EP300 gene, in these cases the case is unknown but it is suspected that another unknown gene is responsible. Rubenstein-Taybi   Syndrome is not inherited by the parents or caused by anything the parents did or did not do while pregnant. Most cases are caused by a single mutation in one gene. Rubenstein-Taybi   Syndrome almost always occurs in cases where there is no family history of Rubenstein-Tabi   Syndrome showing that family history and heredity is not a factor in contracting   Rubenstein-Tabi   Syndrome. It is shown that some individuals with Rubenstein-Taybi   Syndrome can develop breathing problems and irregular heart beats when anesthesia or other muscle relaxers are administered. Rubenstein-Taybi   Syndrome was first discovered in 1965 by doctors Jack Rubenstein and Hooshang   Taybi. Rubenstein-Taybi   Syndrome is a very uncommon disorder it only occurs in approximately 1 in every   300,000 births. Rubenstein-Taybi   Syndrome may be recognized at birth by having a different physical appearance to family members but is not usually diagnosed until a child with Rubenstein-Taybi   Syndrome is about 15 months of age. Rubenstein-Taybi   Syndrome causes physical deformities   some of which include an undersized head, a small mouth, down slanting eyes, a thick scalp, hair that extends to the fore head, a large nose. Rubenstein-Taybi   Syndrome also carries some dental deformities such as an arched palate....

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