Noonan Syndrome

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

Noonan syndrome is a disorder caused by a genetic mutation that causes various parts of the patient’s body to develop abnormally. The condition occurs when a parent passes on an affected gene to their child that produces constantly active proteins, leading to a disruption in the process of normal cell division and growth. Science currently knows of eight genes in which a mutation can cause the disorder. In some cases, there is no family history and the mutation is spontaneous.

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”

Lynch syndrome (LS) is a genetic disorder which increases the risk for other types of cancers and can have

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

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

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,

Not only do clinicians need to work with other professionals, but they also need to be aware of the other comorbidities that may be present in Noonan Syndrome. Many studies listed other cognitive functions that may be impacted by NS, and depending on the nature of the function, it could have a negative impact on language and speech. “Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome” (Pierpont et al., 2014, p.391). Since some links have been made between Noonan Syndrome and delays in attention skills, it is important to keep in mind these associated risks and their implication on language

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

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

The first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. The patient was a 20-year old man with a neck that was webbed; webbing is one of the main symptoms of Noonan syndrome. In 1902 Funke saw a patient with a webbed neck and also micrognathia (undersized jaw), cubitus valgus (elbow deformity), short stature, and also other abnormalities. Another case by means of Ullrich decades later in 1930 of a young girl who had similar deformailites. In 1994 Noonan syndrome was gene mapped to the long arm (q arm) on chromosome 12. It was given the same NS1. Tartaglia found a mutation was found in the protein tyrosine phosphatase (PTPN11) in 2001; the first molecular cause of Noonan syndrome. It’s found that the PTPN11 mutation will cause

Trisomy 13 otherwise known as Patau syndrome is a genetic disorder that affects 1 out of 5,000 newborns. This disease occurs when a person's 13th chromosome appears three times instead of the usual twice. Someone with Patau syndrome often have facial abnormalities, heart defects, very small or poorly developed eyes, brain or spinal cord defects, extra fingers and/or toes, cleft lips and/or palates, and weak muscle. To lower the chances of having a child with Patau syndrome one should get a (NIPT) test. A (NIPT) test is a prenatal test analysing the DNA fragments from the maternal plasma during a pregnancy. Also magnetic resonance imaging (MRI) or computerized axial tomography (CT) scans and chromosome studies can show if a person has Patau

With children with mild cases most of the time no treatment is needed. With other cases some children may need to work with an orthopedist for any bone and muscle related issues, a pulmonologist for any breathing issues, a cardiologist for any heart abnormalities, a urologist for any kidney or bladder issues, an audiologist for hearing issues such as partial or total deafness. With the audiologist for partial deafness they’ll give you some hearing aids but for total deafness they may do surgery and give you a cochlear implant. A speech therapist for any feeding or speech related issues, and a physical and occupational therapist to expand the child’s physical dexterity and