Diseases: What´s Tetra-Amelia? Essay

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.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

First, the most common, which affects 75% of the population, is resulting from de novo maternal deletions involving chromosome 15q.11.2-913. Second, approximately 25% of the population results in mutations in gene encoding the ubiquitin protein ligase E3A gene. Third, there are 2-3% whom results in AS through imprinting defects. Lastly, 2% of the population results from uniparental disomy of 15q11.2-913, where the child receives two copies of a chromosome from parent and no copies from the other parent. The image below (Figure 1) shows the different genetic mechanisms that cause Angelman syndrome. We have a side-by-side visual of the chromosome and what the defect(s) look like, and where it takes place on the maternal

Emanuel Syndrome is a congenital chromosomal disorder that can disrupt the development of multiple parts of the entire body. Though numbers are growing, in 2012, over 200 causes of Emanuel Syndrome have been reported in the United States (Zaki, Mohamed, Kamel, El-Gerzway & El-Ruby, 2012). The numbers of those diagnosed with this disorder are low due to the low incidence of this population, but also because of how new this disorder is. In 2004, Emanuel Syndrome officially got its name (Chromosome 22 Central, 2016). Before this time, individuals who had symptoms of this disorder were diagnosed with varying names such as, Cat Eye Syndrome, 22 Syndrome, or 22q11.2 Deletion Syndrome. In 2004, a support parent group for children with these

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Tetra-Amelia syndrome is a very rare disorder characterized by the absence of all four limbs. (“Tetra” is the Greek word for “four”, and “Amelia” refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, and skeleton. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Tetra-Amelia syndrome has been reported in only a few families worldwide. Management of persons who survive will depend on the presence and severity of associated malformations

Although, chromosome 17 contains multiple genes and each cell contributes to the condition. The loss of the RAI1 gene is considered to be the main source of the syndrome. It has also been seen in a small percentage of the affected that rather than a full deletion of the RAI1 gene, they have minor mutations within the gene that cause variations of the disease. Provided that many individuals with just minor mutations may experience some of these symptoms; they are less likely to show some of the physical attributes that come alongside the full deletion of the RAI1

This is a genetic disorder caused by a missing piece of chromosome 4. It is a rare disease and only affects about 1:50,000 births. The result of this missing piece on the short arm of chromosome 4 is a wide range of physical and developmental symptoms and impairments. These include microcephaly, slow growth in utero and postpartum, hypotonia, seizures, profound intellectual disability, cryptorchidism, and hypospadias, amongst many others. In addition, the child tends to have distinct facial features---“Greek Helmet Facies”--- including a broad nose, cranial asymmetry, hypertelorism, micrognathia, abnormal upper lips, cleft lip and/or cleft palate, and preauricular tags and/or pits. The list of remaining signs and symptoms is too long to this for the purposes of this assignment so I have listed some of the more common ones, knowing that each child may exhibit a different cluster of symptoms. Initial signs of the disease are found during pre-natal ultrasounds but it can only be confirmed through genetic testing. (Wolf-Hirschorn syndrome, n.d.)

have the identified genetic abnormalities that have been seen in a small number of families.

Prader-Willi Syndrome is a genetic disorder that is passed down maternally. The paternal genes of the chromosome 15 in the region of q11-q13 are deleted or unexpressed. The result of these deletions carries distinct phenotypes that differentiate PWS from other disorders (Böhm, 2014). Some characteristics are a short stature, and specific facial features that tend to make the affected persons resemble one other such as seen in Down syndrome. This typically includes “almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, narrow forehead, and a disproportionately long, narrow head (dolichocephaly). Distinctive facial features can be noticeable shortly after birth or may develop slowly over time,” (Cassidy,

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.