Some of these include, but are not limited to Russell-Silver Syndrome, Bladder Cancer, and Emanuel Syndrome. These conditions, diseases, disorders, and cancers will be discussed, and how they have a very substantial impact on a life.
Russell-Silver Syndrome (RSS) is a semi-rare condition that only has about 400 reported cases worldwide. During the years of 1953 and 1954 two doctors, Dr. H. K. Silver and A. Russell discovered and wrote about a dwarfism the could be recognized at or before birth. The condition was obviously later named after the doctors themselves. As stated above Russell-Silver Syndrome is a condition of dwarfism, and factors for it can even sometimes be recognized before birth. However some of the calling cards from this condition after birth include distinct facial appearance, soft spot slow to close, body growth problems, discoloration of eyes and …show more content…
This disorder has had many names now retired due to their social incorrectness; one of those including ‘cat-eye syndrome’. The most recent renaming came in 2005 and workers from the Pennsylvania Medical Center were working on this condition that affects the eleventh chromosome, and one of these doctors was named Dr. Beverly Emanuel, and thanks to her hard work it was renamed after her. “Emanuel syndrome is a condition in which genetic material from two chromosomes are crossed, causing an extra chromosome and numerous health problems,” (Kelly 218). ‘Translocation’ is also a term often used while referring to Emanuel Syndrome (Kelly 218). Some problems caused by Emanuel Syndrome may include poor muscle tone at birth, distinct facial features, ear disorders, cleft palate, failure to thrive, developmental delay, heart defects, kidney issue, sex organ abnormalities, and severe intellectual disabilities. Children with Emanuel Syndrome have an extra chromosome with genetic material from all of the chromosomes. Chromosome Eleven has about “134 million amino acid base pairs and about 1,500 genes...about 150 genes relate to the sense of smell,” (Kelly 219-29). This small amount of repeat genetic material leads to a wide variety of defects that are present at birth and later lead to profound intellectual and physical disabilities. Since this condition affects the body in widespread there are many