Is Emanuel Syndrome A Congenital Chromosomal Disorder That Can Disrupt The Development Of Multiple Parts Of The Entire Body

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the disease (Weiss 2012).

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

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.

1. Swelling of lips and dysphasia with questionable early Stevens-Johnson syndrome. 2. Rheumatoid arthritis class 3, stage 4.

Edward's Syndrome is from a trisomoy of chromosome 18. It can affect one in every 10,000 new borns and causes many problems from almost every organ system. Some infants with the syndrome will survive less than a year.

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.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

These characteristics can gradually diminish as the child ages, but it is important to note that diagnosis does not change because of this.

Distortion of the facial features can take place in a newborn with this disorder due to the thick plates of skin

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

The symptons include facial disformities including downward slanting eyes, smaller lower jaw (also referred to as micrognathia),underdevloped zygoma, drooping

Prior to the study, it was known that chromosomal rearrangements within the 22q11.2 locus have been associated with an increased risk of neurodevelopmental disorders. Specifically, 22q11.2 deletion holds the greatest risk for schizophrenia, approximately 30 times the risk, while 22q11.2 duplication is associated with autism and delays in psychomotor development and language. This study was the first to look at the effect of 22q11.2 (deletions and duplications) on brain morphology.

Angelman syndrome was first identified by Harry Angelman in 1965. It is a genetic disorder and Angelman noted the disease as a unique 'syndrome' by the presence of "several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter" (Stรถppler 2012: 1). Symptoms usually become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected. Although children with Angelman syndrome are prone to epileptic seizures from age two onward, their life expectancy is otherwise normal. Identifiers of Angelman syndrome include cognitive and developmental delays and problems with coordination of speech and movement (Stรถppler 2012:1). Children with Angelman syndrome are also often described as hyperactive. Children appear normal at birth but often begin to have feeding problems and do not meet expected developmental milestones.

The partial monosomy 18q (de grouchy syndrome) is an autosomal chromosomal disorder due to the absence of the long arm of chromosome 18. The main clinical features include, mental retardation (MR), microcephaly, congenital heart disease, hypotonia, congenital aural atresia (CAA), midface hypoplasia, hypertelorism, foot deformities and short stature. We report the case of a child with partial monosomy 18q. The patient showed some characteristics of the de grouchy syndrome. Congenital heart disease was the most obvious feature observed in this patient. However, the symptom was milder than the typical de grouchy syndrome. At present, we can expect better prognosis for this patient.

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.