Robinow Syndrome Research Paper

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

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.

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

This disorder mostly presents in female children at a rate of 1:10,000-15,000 births and appears in every race and ethnic group around the world. This disorder rarely manifests in males, but when it does, the child usually does not survive, passing away shortly after birth (ninds). Rett Syndrome is thought to be caused by a mutation on the X chromosome in the MECP2 gene. There are four different types of Rett Syndrome including: typical or classic, early seizure or congenital onset, late onset, and preserved speech. (Rs.org) The diagnosis of either classic/typical RTT or a variant is done by a pediatric neurologist, developmental pediatrician, or a clinical geneticist (ninds) using a RTT Diagnostic Criteria Worksheet. According to Hagberg (2002), a child with classic RTT

The world of psychology remains an ever-growing force, affecting humankind constantly with the capability to shape or change a person's overall cognition and behavior.  Frequently, psychological disorders or conditions arise due to the normal anatomy or physiology of the brain being altered, manipulating or even magnifying the average person's state of mind.  Upon delving into the expansive realm of psychological conditions, I had discovered a rather unique condition that evidently leads its victims to believe they are no longer among the living: Cotard's Syndrome (AKA Walking Corpse Syndrome).  In short, it goes without saying that the grotesque delusions of this syndrome are undeniably captivating, which drew me in with

Rett Syndrome is an extremely rare genetic disease that causes developmental and nervous system problems. Rett typically appears in girls. It is hardly inherited, and if it is it passed on by female carriers. Rett Syndrome unfortunately has no cure.

The treatment depends on their specific symptoms. If an individual’s heart is affected, then they would be treated just like any other individual with a heart condition. If they have growing problems it is most likely due to the fact that they don’t have enough hormones. If that is the case, then the individual would be given growing hormones as a treatment. Early development disabilities are dealt with during therapy when the right equipment is present. If the individual had bleeding problems, then the treatment all depends on their

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

I am choosing to learn more about Dravet Syndrome which is a type of epilepsy. I have chosen this disease because I met a girl at work who is about my younger brothers age who has this. Her parents came in asking if we would do a fundraiser for her and I got to spend time with them and learn more about this disease. We held a fundraiser at Rita’s and helped raise over $150 and taught people about her disease.

The Charles Bonnet Syndrome (CBS) is a common condition among people who have lost their sight. The syndrome causes people who have lost their vision to hallucinate, to see people and things that are not actually there. People who have CBS may have lost partial or all of their vision due to an eye condition, such as age-related macular degeneration, cataracts, glaucoma or diabetic disease. The elderly tend to have higher rates of CBS as many of them tend to have age related eye disease or problems which can cause the onset of CBS. Younger individuals may develop CBS as any eye condition that causes the loss of sight can trigger CBS.

Usher syndrome is where a human losing hearing, some balance, and loss of vision. The genes are MY07A, USH1C, CDH23, PCDH15, and SANS. The chromosomes are 15 in which are haplotypes. Haplotypes is a group of genes within an organism that was inherited together from a single parent. The main symptoms of usher syndrome are hearing loss and an eye disorder call Retinitis Pigmentosa (RP.) Retinitis Pigmentosa causes night-blindness and loss of peripheral vision. Peripheral vision is where a person has side vision.

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.

Marshall’s Syndrome is a rare autosomal dominant genetic disorder. It causes distinctive facial features and limits hearing, smell, and sight based senses. It is caused by irregularities in the COL11A1 gene. Research on the disease is limited. The number of people affected by it is unknown due to little research on the subject. Though the disease causes many problems for the people affected by it, it’s not impossible to live a normal life while suffering from its effects.

X-linked disorders are also called sex linked diseases are passed down through a person parents through one of the X or Y chromosomes. X and Y are sex chromosomes. The prevailing abnormal gene from one parent causes disease even though the matching gene from the other parent is normal. This abnormal gene dominates the others. However in recessive inheritance, both matching genes have to be abnormal to cause a disease. If only one gene in the pair is abnormal, the disease does not occur or it in a mild form. People who have one abnormal gene and have no symptoms are called a carrier. Carriers can pass abnormal genes down to their children. Here are some X-linked disorders below.

Content: Group one presented over Williams Syndrome. Williams Syndrome is a genetic condition that is caused by a deletion of 26-28 genes on chromosome seven. The more genes deleted, the more severe the characteristics will be. The deletion is also present from conception due to an abnormality of the egg or sperm cell. The syndrome is named after John C. Williams. However, Alois Beuren is also credited for research on Williams, which is why it used to be referred to as Williams-Beuren Syndrome. Williams occurs in less than 20,000 people in the United States! That’s incredibly rare! It is also interesting to know that the disorder affects males and females equally. Some key characteristics of this