Noonan Syndrome
Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person.
In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan. Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features.
Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking. According to NORD, "affected individuals may experience abnormal delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor
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Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.
Their cognitive, physical and emotional function will be altered and they will find it difficult and frustrating to adapt to. The individual may need help
The brain and central nervous system problems, with a child on the spectrum, will include issues such as: poor coordination, balance, memory, attention, processing speed, reasoning, intellect, judgment, mood regulation, and difficulties with hyperactivity. Even though this list of challenges is long, it is important to know that there are just as many social and behavioral problems as well. Children with FAS tend to have difficulty in school. Their ability to stay on task and set goals, such as research papers present a large challenge to children with FAS. They also have poor social skills, causing trouble getting along with others.
The new criteria extend the concept of the disease to a broader disease spectrum and recommend the use of term ‘NMO spectrum disorders’. However, the main clinical criteria remain the same. NMO is more frequent in women [Refs] and the age of onset ranges from 35–45 years [Refs]. Although familial cases have been reported [Refs], the disease is mainly sporadic.
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is.
It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Once those results were in, they told me that he had a chromosome abnormality. They explained that there was an extra piece on chromosome 22. His final diagnosis at that time was mild cerebral palsy, hearing loss and multiple
The human genetic disorder that I selected is Cystic Fibrosis. Cystic fibrosis is a common genetic disease within the white population in the U.S. Genetic human reference describes it as an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. Common signs and symptoms are progressive damage to the respiratory system and digestive system. Mucus is usually a thin slippery substance that lubricates and protects linings of organs and tissues. Cystic fibrosis deals with mutations in the CFTR gene.
Health problems: such as Asthma which affects the child’s breathing, the child will then get breathless a lot quicker than others when taking part in physical activities. Other factors such having been born premature could result in health problems affecting their development and having a slower development rate. A child could be born
Cowden syndrome is a disease that increases the risk of getting multiple different types of cancers. It is passed down through heredity and can be life threatening. Cowden syndrome can be treated by decreasing symptoms and living a healthy lifestyle. People with this disorder should be tested more often and possibly take medication to reduce symptoms. It is a negative mutation because it decreases the chance of an organism’s survival.
In 1942, Dr. Harry Klinefelter and his team first identified the combination of features that are now known as Klinefelter Syndrome (KS).1 By the late 1950s, a group of researchers deduced that men with those features had one extra X chromosome. Although KS is the most common sex-chromosome abnormality, the amount of famous people who identify with this disorder are limited. However, some examples would be Lili Elbe, a transgender Danish painter/model, and George Washington, the first President of the United States. Even though the symptoms of Klinefelter Syndrome may vary depending on the individual, some common signs are: delayed or incomplete puberty, reduced muscle mass, breast enlargement (gynecomastia), reduced hair, infertility (little
A person suffering from this disorder may have difficulties concentrating
It can be seen through ultrasound screenings Turner syndrome fetuses often have fluid in the back of the neck, heart problems, and irregular kidneys. At infancy, common symptoms include puffy legs and hands, webbed neck, low ears and hairline. The most prevalent symptom is a short stature