Dwarfism

07. Von Hippel-Lindau ( VHL ). VHL is said to affect one in every 35,000 people. It is a very rare genetic condition that is often characterized by the growth of numerous tumors in different parts of the body. It is an inherited disorder causing benign and malignant tumors to develop in the central nervous system and viscera. These tumors can start to grow in the retina, the brain, and in the spinal cord. Tumors also arise in the pancreas, epididymis, and the inner ear. If left untreated, this…

cure diseases like asthma, baldness, cancer, why shouldn't we prevent these diseases before we are even born?” (“Genetic Engineering”) As you can see, this form of human enhancement, has pure intentions for preventing conditions such as cognitive dwarfism and tissue-type plasminogen activator, which leads to heart…

Ms. Sallard was hired and began orientation training. During the training Ms. Sallard indicated that a small stepladder or stool would help her perform the job easier. Ms. Sallard made this request because she is small in stature, also known as dwarfism. This is a visible disability and no further explanation of why a stool or small ladder was needed. The manager not only disregarded this request but also fired her. The manager claimed that Ms. Sallard would impose danger to the employees…

Couple). Bill stands at 4 feet and has a rare variation of a skeletal dysplasia called Spondyloepiphyseal Dysplasia (or SED) and he has had more than 20 surgeries (The Little Couple). She stands at just 3 foot 2 and has a similar, and also rare type of dwarfism called Spondyloepiphyseal Dysplasia Type Strudwick, Jen has had more than 30 surgeries and in 2015 she fought a rare cancer (The Little…

Deoxyribonucleic Acid better known as DNA is housed in the cell’s nucleus where the genetic material is. DNA is a long molecule that forms a double helix, folded inside of the nucleus of the cell. The double strand of DNA is held together by hydrogen bonds. The double helix of DNA run head to tail. DNA is typically millions of base pair long (Shier, Butler, Lewis, 2016, p.94). Deoxyribonucleic Acid is one type of nucleic acid with the sequence of building blocks that hold information that…

Shelia Black was pregnant with her first child and it was not a typical joy to all of her family. She has a rare case of X-linked hypophosphatemia, also known as XLH: a condition that causes’ dwarfism. Her Aunt once told her that “God would not want you to have children.” Shelia was the first in her family to have the disease, so bringing up her initial fear of passing the disease on was shut down by the genetic counselor. The doctor was right initially and she had a healthy daughter Anabelle.…

I can see how this can sound terrible. I’m not referring to disabilities like Dwarfism where people can live rich and fulfilling lives. I’m referring to disabilities that cause short lives that are composed entirely of pain and suffering. It is often argued that mothers who would have an abortion due to a prediction of a serious disability…

Background Progeria is an extremely rare form of dwarfism, affecting a mere 200-250 children worldwide at a time (Gordon, 2013).Classically known as Hutchinson-Gilford progeria syndrome, HGPS is a disease that causes the body to "prematurely age". Manifestations of this disease affects the skin, musculoskeletal system, and vasculature. The term progeria is derived from the Greek word geras, meaning "old age" (Shah, 2015). Dr. Jonathan Hutchinson first described this syndrome in 1886, and…

Rare peroxisomal biogenesis disorder RCDP1, is a genetic disease diagnosed in infants and inherited in an autosomal recessive pattern. The disease is caused by a monogenic nonsense or missense mutation in the PEX7 gene of humans, encoding the Pex7p import receptor protein responsible for transporting PTS2 proteins and enzymes from the cytosol to the matrix of the peroxisome. Affected individuals are significantly impaired and do not live longer than a decade, displaying severe learning, growth,…

this disorder growth and evolution of cartilage, bone, and connective tissue are impaired. Osteochondrodysplasias can be passed down by the parent to the offspring. This disorder causes the skeleton to flourish abnormally and the results can lead to dwarfism. The chances in someone having osteochondrodysplasia is one in every 4000 to 5000 births. This disorder is not developed as growing older you are born with it. HISTORY Osteochondrodysplasia has not been updated since the year 2010. Back…