Rubinstein-Taybi Syndrome

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.

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.

Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

There are three distinctive characteristics that people with cri-du-chat syndrome exhibits. The first distinction is during birth; babies who are born with the syndrome have “a distinct high pitch monochromatic cry,” that resembled a crying cat. The cat-liked cries usually fade away within their second year of life. Additionally, they have low birth weight. The second is a clinical distinctions which varies from patients to patients, however, the physical appearance of the person may have a rounded face structure, eyes wide apart, malocclusion, and microcephaly (small head). Another example is the palm of their hands; the line on the palm goes straight across the entire palm. The third characteristic of the syndrome deals with intellectual disability and it ranges in degree (Pituch, 2010). According to Kristoffersen (a professor in Linguistics and Scandinavian studies) tested 26 children and their IQ test ranged from 40 to 57. Kristoffersen also reported children with cri-du-chat have behavior complications for instance, “hyperactivity, stereotyped aggressive and self injurious behaviors.” Speech and language development are also impaired with individual of cri-du-chat syndrome.

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

In most cases of Cri du chat the syndrome isn’t inherited. The chromosomal disorder usually occurs because of a random event during the formation of reproductive cells (eggs or sperm) or during early development. People with cri du chat typically don’t

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

It is most often characterized by difficulty in the child's ability to respond to people, events, and objects. Responses to sensations of light, sound, and feeling may be exaggerated. Delayed speech and language may be associated. Other characteristics include: impairment in ability to make peer friendships, absence of imaginative activity, stereotyped body movements, persistent preoccupation with parts of objects,

Tay Sachs is a inherited and rare genetic disorder named after the two scientists that discover significant aspects of the disease. Their names are Warren Tay and Bernard Sachs. Warren Tay was a ophthalmologist who discovered the cherry red spot on the retina of the eye. Whereas, Bernard Sachs, a neurologist, discovered the cellular changes of the disorder (National Tay Sachs & Allied Disease Association, 2015). Tay Sachs varies and the most common being in infants. What is Tay Sachs disease? Tay Sachs is a inherited genetic disorder where both parents carry the gene and pass it on to their child.

DIAGNOSTIC CRITERIA: Prenatal onset of marked growth deficiency, microcephaly with secondary premature synostosis. Receding forehead, prominent nose micrognathia low set ears malformed ears with the lack of lobule down slanting palpebral fissures. Clinodactyly of fifth finger

By this age, children have worstened in their lack of ability to remain attentive [http://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/neurological-conditions/hic-tay-sachs.aspx] incliding visual attentiveness, associated with the well-noted cherry-red spot (present in all affected children) [http://www.ncbi.nlm.nih.gov/books/NBK1218/].

Due to recent research of the RAS genes in the human body, it has been discovered that the mutationally activated genes can cause cancer cells as well as different diseases. Out of the wide range of members in the RAS oncogene family, the most commonly well-known genes have been the HRAS and KRAS genes because of their role in the very rare syndrome linear nevus sebaceous syndrome. Linear nevus sebaceous syndrome is a disorder that affects multiple systems including the central nervous system, the ocular system and the skeletal system. Numerous studies have suggested a link between this disorder and the mutations of the RAS oncogene family with the inclusion of the individual’s phenotype.

First, the mutation occurs in the MECP2, which controls the functions of many other genes. It is located on the X chromosome. According to the National Institute of Neurological Disorders and Stroke, “The MECP2 gene contains instructions for the synthesis of a protein, which is needed for brain development and acts as one of the many switches that can tell other genes when to turn off and stop producing their own unique proteins” (Rett Syndrome Fact Sheet: NIH NINDS). The National

This study was done by Neul et al. to better understand the developmental patterns of Rett syndrome. It was designed and executed to learn more about typically developing Rett syndrome with a normal regressive pattern in comparison to atypical Rett Syndrome. This study was restricted to females under the age of ten to better assess the parental questionnaire portion of the study. The authors of this article looked to find patterns within the development of certain skills. Since many of these skills are lost later on in development, the authors began to look at the variation in the gene mutation and how it affects within syndrome variability in Rett syndrome. (Neul, et al. 2014).