Cited: Malady of the Month-Progeria. Kugler, Mary. Progeria Syndroms. Werner Syndrome.
Cited: Malady of the Month-Progeria. Kugler, Mary. Progeria Syndroms. Werner Syndrome.
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome 's senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have "plucked bird" appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self.…
The condition is diagnosed through genetic testing. It is specifically DNA-based methylation testing to distinguish the absence of the paternal chromosome; chromosome 15.This test is recommended for new borns with pronounced hypotonia (praderwillisyndrome, 2010). An early diagnosis allows for early intervention as well as early provision of growth hormone (GH) treatment. GH gives an increased muscle mass and supports linear growth. GH…
During this talk held in Washington D.C on October 2013, Sam Berns a 17 year old who suffers from a strange disease called “Progeria,” explains how this condition has only allowed him to live a happier life. According to the speaker this is an extremely rare disease that affects approximately 350 kids worldwide. It is characterized for giving children a premature aging aspect and the most common symptoms are: growth failure, loss of hair and body fat, heart disease and aged looking skin.…
Genes have an effect on middle childhood development. Everything from height and weight to hair color are determined by genes. While other things such as nutrition do affect whether one will grow to their true potential, genes are the main contributing factor. Genetics can also explain why some children have certain diseases and others do not. Children are resilient and will learn to live with the genetic disorders they may face. It is not only physical disorders that can affect a child, but also cognitive impairment can affect a child as well. Some mental disorders are shown to run in families and can be passed from mother or father to the child.…
The genetics that an infant can inherit from the parents can decide the height and weight of that person. Also if there are any physical disabilities or abnormalities these can also be inherited from the parents to the infant. This can affect the child physically because it can affect their development, growth and motor skills. Children have to build their muscle mass in order to be able to have the strength to develop as a person their age should. Disabilities or abnormalities can affect this.…
Rett's syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. Rett's Syndrome can be summed up by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. The sickness was first breached upon by Dr. Andreas Rett who briefly described the illness and some of the occurring symptoms, and then later on Swedish researcher Dr. Bengt Hagberg published an article in 1883 giving…
In humans achondroplasia is the most common form of non-lethal skeletal dysplasia (short limb dwarfism), affecting over 250,000 people worldwide. The incidence is approximately one in 10,000-30,000 live births. (1-7) Achondroplasia is characterised by short stature (average height of 120-132cm (2,3)) with disproportionately shorter proximal limb bones, a long trunk with a narrow thorax, macrocephaly with frontal bossing and mid face hyperplasia. (1-4) People with achondroplasia also have short broad hands with trident like appearance of the fingers, thoraco-lumbar kyphosis and bow leg deformity due to a faster growth rate of the fibula relative to the tibia. There are also many more pathological features due to the varied effects…
When tasked with the objective to choose one disease that is caused by a defect in chromosome number or structure, my options were quite varied. However, one disease in particular that stood out to me was, Wolf Hirschhorn syndrome. I chose this particular syndrome, because I knew of a family who’s child was diagnosed with, Wolf Hirschhorn syndrome: a former employee of my father. What stood out most to the other children and myself, about this child, were her facial features: a very small head (similar to that of patient’s who suffer from microcephaly) and her asymmetrical facial features. Like any inquisitive child, and more specifically someone who had a serious interest in human science at the time, I always wondered exactly what caused said malformations. It was not only until I got much older, that I had the moxie to ask exactly what caused this child’s facial abnormalities.…
Laron syndrome is another inherited endocrine disorder in which a person is unable to use growth hormone. The child will appear normal at birth, but then grow very slowly and be significantly shorter than people who can process growth hormone. People with this disorder commonly have less muscle and lower blood sugar, as well as smaller genitals and protein deficiencies. They are also more at risk for become obese. Mutations in the GHR gene are responsible for Laron syndrome (GHR 2015c).…
An umbilical hernia is when a section of your child's intestines pushes through a small opening in the muscles surrounding the belly button. This can happen when a natural opening in the abdominal muscles fails to close properly. Most umbilical hernias close over time. If the hernia does not go away on its own, surgery may be necessary.…
A person who has this deformity runs a 50% risk (1 in 2) of bearing offspring who will inherit the gene and will therefore also be affected. Autosomal recessive inheritance and X-linked recessive inheritance account for the other forms of single-gene inheritance that cause birth defects. In cases of autosomal recessive inheritance, both parents are normal but each carries a silent, or recessive, gene that, if matched in an offspring, causes the birth defect. Because both parents are so-called carriers (heterozygotes) of the same abnormal gene, they run a 25% risk (1 in 4) of having a child with the birth…
Pelizaeus-Merzbacher is an X-linked disease usually caused by mutations of the proteolipid protein 1 (PLP1) gene which leads to faulty myelination of the central nervous system (Chawla, 2014). It is a progressive and degenerative disease, which usually commences during the first few months of being born, however other milder cases can sometimes start during later on in childhood. There are two main forms of this disease: the most severe type called the connatal form, and the more common type which two thirds of patients have and shows typical symptoms of the disease, called the classical form (Yamamoto and Shimojima, 2013). The name was derived from two German physicians; Friedrich Pelizaeus first describing the disease in 1885, followed by…
Progeria is an extremely rare genetic disease which causes young children to age very rapidly. This condition is from the Greek word for old age “geras.” It is estimated that it only affects one in four million newborns throughout the world. A newborn typically will appear normal. Within the year the child’s growth rate decreases and they look shorter and weigh much less than other children around their age. The appearance of these children becomes looking like an older person, such as “baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (What do we know about heredity and progeria? 2011). There…
Imagine having one of the rarest genetic diseases in the world: Progeria. Also known as Hutchinson-Gilford Progeria, this disease classifies only 50 patients worldwide. In 2007, the Children’s Hospital Boston aimed at enhancing the life for children with Progeria. The Progeria Research Foundation (PRF) and many other agencies aided the hospital with this goal of finding treatments and cures to increase the life duration of Progeria victims. Measures and observations taken in this experiment were noted on the various symptoms such as alopecia (baldness), short height, subcutaneous fat (fat under the skin), bone integrity, limb and dental abnormalities, and cardiovascular problems.…
A 12 year old girl named Ontlametse Phalatse lives in Hebron, a small town just north of Johannesburg, South Africa. When she gets home from school, she does homework, watches tv, does her daily chores, and sometimes helps her mother cook. Ontlametse has bright plans for the future, to become a psychologist. This seemingly ordinary child is also known as the only living black person with the disease known as Progeria. This rare disease is a genetic condition that’s speeds up the aging process. There were only two other black children that were diagnosed with the condition, but they died. Ontlametse and a white child are the only Africans diagnosed and they both live in South Africa. They may live there because South Africa has some of the best medical care on the continent. Most children with Progeria die between the ages of 8 and 21, usually suffering from heart failure, strokes, and high blood pressure.…