Genetic Disease Noonan Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Trisomy 13 is a very terrible disease to have. The disease causes many deformities. You would have a very deformed body. The disease happens when there is a third thirteenth chromosome. Instead of the normal two, there would be three. The symptoms are heart, brain, spinal cord, and bone abnormalities, also a hole in the iris lip and pallet. Along with those are small head, eyes, and lower jaw, then there is close-set eyes that can fuse into one and low-set ears.

Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused by a mutation in the genes, there are some other cases that result from

One of my cousins suffers from Noonan syndrome, a disorder that affects many areas of his body. There are many manifestations of this genetic disorder. My cousin suffers from unusual facial characteristics, short stature, and skeletal malformations, to list just a few. He has gone through multiple surgeries and faces a lot of daily challenges, including learning difficulties at school. He is never going to be cured of this disorder. He will live to a normal life expectancy barring any extraordinary medical occurrence. Although many of his problems can be medically dealt with so that the disruption to his daily life is minimal, he can never be as tall as the other kids, or look normal, or learn as they do. He is always going to be just “a lot”

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

In 1996, the susceptibility locus for Cowden syndrome was mapped to chromosome 10q22-23, and in 1997, germline mutations in the PTEN gene (phosphatase and tensin homology, deleted on chromosome 10) on 10q23 were first reported in families with this syndrome. Hamartomas in Cowden syndrome affect all three germ cell layers but most commonly arise from ectodermal and endodermal elements. Almost all patients (90% to 100%) have mucocutaneous lesions that include trichilemmomas, acral keratoses, and oral papillomas. Breast lesions affect the majority of female patients and include fibroadenomas, fibrocystic disease, and adenocarcinomas (25% to 50%). Thyroid abnormalities, such as multinodular goiter and follicular adenoma, are found in one half to two thirds of patients. Thyroid carcinoma occurs in 3% to 10% of patients. Macrocephaly, cerebellar gangliocytoma, and genitourinary malformations are also frequent components of Cowden syndrome. Increased risks for endometrial carcinoma and renal cell carcinoma have been added to the operational criteria for Cowden

Cornelia de Lange Syndrome is a rare genetic disease, which can affect multiple systems. Cornelia de Lange Syndrome results in serve intellectual disability. The syndrome is often referring as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is to provide information in more detail about Cornelia de Lange Syndrome.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

At a molecular level, it is a disease resulting from a sequence microdeletion on chromosome 22.1,4 Its current preferred name is 22q11.2 deletion syndrome.2 It is characterized as loss of about 30-40 genes, with some individuals having shorter deletions in the same region.1 One gene loss TBX1, attributes to heart defects, cleft palate, the distinctive facial feature of the disease, hearing loss and low calcium.1 Another gene deletion COMT, increase likelihood of behavioral problems and mental illness.1

Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159). Alteration in the number of chromosomes can affect the health of an individual. One good example of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000 newborns and affects female slightly more than the male. Babies who are born with this disorder have many abnormalities. Affected infants will present with intellectual and physical abnormalities that include brain and spinal cord abnormalities, heart defects, kidney defects, and extra fingers or toes. Their head is smaller than the normal baby, they have cleft

This condition may be caused by a gene that is passed down from parent to child (inherited). In some cases, the cause is not be known.

Leigh’s syndrome is caused by a dysfunction in mitochondrial energy generation. It is a severe disorder that has numerous characteristic features and many symptoms. Mutations in genes of both the mitochondrial and nuclear DNA can cause Leigh’s syndrome; however, a common cause is as a result of defects in the SURF1 nuclear gene. Functional SURF1 is necessary for the biogenesis of the cytochrome c oxidase complex, which plays an important role in the electron transport chain located in the inner mitochondrial membrane. Research is still ongoing to discover and implement a reliable and effective treatment for Leigh’s syndrome.

What is a genetic disorder? Scientifically speaking it is defined as a permanent alteration in the DNA sequence that makes up a gene. This alteration could be as small as the addition or deletion of a single base pair or large enough to cover multiple genes.