Treacher Collins Disease Research Paper

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

Treacher Collins syndrome is also known as Franceschetti-Klein syndrome and mandibulofacial dysostosis. It was originally written about by George Andreas Berry in 1889 and next by Dr. Edward Treacher Collins in a 1990 case report. In each circumstance,

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

In conclusion, Tay Sachs Disease is an auto recessive disorder that can only be inherited by a child if both of their parents are carriers of the trait. The likelihood of a pregnancy resulting in an affected child is one in four. In addition to how the gene is transferred via parents, there has also been research concluding that there is a correlation among those carrying the gene or affected by the gene and their ancestry. TSD is considered to be a Jewish disease due to the high number of incidences of TSD occurring in the Jewish

How would you like your life being in danger right after you’re born because you can’t breathe? Treacher Collins syndrome (TCS) causes underdevelopment of facial bones that could threaten an infant’s life by making it difficult to breathe. If the baby lives past this point they will have many facial deformities. Treacher Collins syndrome happens because of a mutation in TCOF1, POLR1C, or the POLR1D genes. TCS causes an underdeveloped facial bone, a small jaw and chin, an opening in the top of the mouth called cleft palate, eyes that slant downward, few eyelashes, a notch in the lower eyelid called a coloboma, eye abnormalities can cause vision loss, and unusually shaped ears lead to hear problems. All of these problems are linked with Treacher

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.

Cornelia de Lange Syndrome is a rare genetic disease, which can affect multiple systems. Cornelia de Lange Syndrome results in serve intellectual disability. The syndrome is often referring as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is to provide information in more detail about Cornelia de Lange Syndrome.

Tay-Sachs disease takes place when there is an absence of hexosaminidase A within the human body. Hexosaminidase A is protein that allows for the breakdown of gangliosides, or chemicals found in nerve tissue. In the absence of Hexosaminidase A, gangliosides accumulate in cells, particularly within nerve cells of the brain. The main cause of Tay-Sachs disease is identified as a defective gene on a chromosome. In order for a child to inherit the disease, the child must receive the defective gene from both parents. If the defective gene is only inherited from one parent, the child only has one copy and is considered a carrier of the disease. As a carrier, the child will not have the disease, but will be able to pass it on to offspring. Although

This disease is genetic and has no environmental factors. De Grouchy syndrome is a rare condition caused by a chromosome 18 abnormality. The affected person will have a short stature, lack of muscle tone, hearing impairment, and foot deformities. Poor coordination, involuntary eye movement, seizures, a small head, underdeveloped mid-face, deep-set eyes, and autistic behavior are also symptoms. There is no known treatment for De Grouchy syndrome. Scientists are working on a treatment, but it is hard to make a treatment for a disease that has no environmental factors. To effectively diagnose De Grouchy syndrome, a genetic analysis needs to be performed. You must go to a hospital or doctor's office to have it diagnosed. It is genetic and it cannot

Jackson-Weiss Syndrome (JWS) is an inherited genetic disorder rarely seen in most countries. Mutation in a specific gene responsible for development of fatal bone tissue causes overstimulation of bone cell growth, which bring about the abnormalities in growth and development of the bones. JWS is inherited in an autosomal dominant manner, which means the disorder have a 50% chance of being pass down to future generation. The symptoms of JWS varies greatly depending of the severity of the disorder, it can also be extremely variable even if patients are of the same family. Most individuals with JWS has craniofacial abnormalities such as, early fusion of fibrous joints between some particular bones in the skull, which severely affects the shape

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.

What is Crouzon Syndrome? It’s a genetic disorder that is characterized by the premature fusion of certain skull bones(craniosynostosis). When the bones are fused permanently it causes the shape of the head and face to be deformed. I choose this topic because my nephew Karter was born with Crouzon Syndrome it encouraged me to have a better understanding of this disorder. As I mention before fusion prevents the skull from growing normally and will require surgery to be corrected. The Effects of Crouzon syndrome is wide bulging eyes and vision problems which is caused by the shallow eye sockets, the eyes doesn’t point in the same direction (strabismus.) Kids with Crouzon syndrome may have a beaked shaped nose, underdeveloped upper jaw line,

There are over 5,000 genetic disorders passed down through the generations. These disorders are caused by abnormalities within the chromosomes of an individual. Rubinstein-Taybi syndrome, or RSTS, is a rare genetic disorder that occurs in 1 child out of anywhere between 100,000 to 125,000 children. It was identified by Dr. Hooshang Taybi, a pediatric radiologist, and Dr. Jack Rubinstein, a pediatrics professor, in 1963.

Crouzon syndrome is caused by a mutation in the fibroblast growth factor receptor-2 (FGFR2) gene [2]. Premature craniosynostosis, midface hypoplasia and exophthalmos account for the triad of Crouzon syndrom. Premature closure of cranial sutures, most commonly the coronal and sagittal ones, results in abnormal skull growth, affects the growth and development of the orbits and maxillary complex. Other clinical features include hyperteleorism, exophtalmos, strabismus, beaked nose, short upper lip, maxillary hypoplasia and relative mandibular prognathism. Acanthosis nigricans is the main dermatologic manifestation of Crouzon syndrome Optic atrophy is frequently seen and has been reported 30 to 80% of patients. Increased intracranial pressure leading to optic atrophy may occur, which can produce blindness if the condition is not