Noonan Syndrome Case Study

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

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”

Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s

This Noonan syndrome is not sex-linked. In other words, K.J. Jr. would have still had this disease even if he was a daughter. It associates to his autosomal chromosomes, or any chromosomes that aren’t sex linked. Therefore, the gene is not

At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene.

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

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

Your health care provider may suspect trisomy 13 or 18 if multiple defects are found at birth. The diagnosis can be confirmed by genetic testing done on a blood sample. Your health care provider may have imaging studies done to check for major abnormalities in the heart, digestive system, or brain. These may be done using:

Witkop syndrome is manifested by defects in the nail plates of fingers and toes typically and hypodontia, with normal hair and sweat gland function. There is a pattern of missing teeth.8 Absent maxillary incisors, second molars, and maxillary canines are the most common missing teeth.9 Genetically, mutations in genes MSX-1, PAX9, PsITX2, LTBP3, WNT10A, EDA and EDARADD, AXIN2, and IKBKG have been found associated with oligodontia. Mutations in MSX-1 have been shown to be associated with Witkop’s syndrome.[10)

Williams Syndrome is a rare disease that is caused by deletion of certain genes in chromosome 7 during the formation of reproductive cells. It is known as an autosomal dominant condition because one copy of the altered chromosome 7 is all that is needed to cause Williams Syndrome. While it can be inherited from a parent who already has the disease, it can also randomly occur in anyone. It causes some medical problems along with physical abnormalities, mental capacities, and personality characteristics. This rare disease affects 1 in 7,500-10,000 people. An estimated 20,000-30,000 people in the United States currently have been diagnosed with Williams Syndrome. There is no specific gender that Williams Syndrome, it occurs equally in both of

Another symptom of Marfan’s is a long, narrow face. Another noticeable characteristic of someone with this genetic disorder is they tend to have crowded teeth because the roof of the mouth is arched. Some people with this disorder have a breastbone that sticks out or caves in. They may have the disease if they look like they have a curved backbone. People with Marfan’s usually have flat feet also. Most people with Marfan syndrome tend to have problems with the heart and blood vessels. Some people with Marfan syndrome have problems with the eyes, for example, nearsightedness.( Phillips, 2006)

This condition is caused by the deletion of several genes located on the long arm (q arm) of at least one strand of chromosome 7. Some of these genes include LIMK1, CLIP2, and NCF1. Much research is focused on the absence of a gene known as ELN, also known as the elastin gene (Williams syndrome, 2013). Researchers have suggested that the deletion of this gene is a major source of much of the phenotypical symptoms of Williams syndrome

Leigh’s Disease is a rare genetic neurometabolic disorder. Typically you begin to notice this within the first year of the childs life. This disorder shows gradual loss of mental abilities and physical abilities such as movement. End results seem to be death due to respiratory failure within a few years. Only a very few rare cases have included adults and have had symptoms worsen slowly (Leigh syndrome - Genetics Home Reference).

There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from chromosome 21. Chorionic villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week and it carries a high risk of the mother having a miscarriage.

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.