Treacher Collins Syndrome Research Paper

At this time, there is no way to stop or reverse the course of HD. There is no current treatment to halt the progression, which leads to death after ten to twenty-five years. However, research has identified and located the gene for HD, so it is inheritable, but hopefully this identified gene can help researchers learn more about this horrific disease.

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.

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,

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

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

Warren Tay, an English physician who first described the symptomatic cherry-red eye in 1881 (Edelson, 1997). Research later in the 20th century illustrated that Tay-Sachs disease is a genetic disorder caused by a mutation in the HEXA gene on chromosome 15. Many other HEXA mutations have been discovered since then, including different mutations within different populations. Being an autosomal recessive disorder, for an individual to exhibit symptoms it is required to have two Tay-Sachs alleles affected, meaning that when both parents are carriers, the offspring have a 25% of being affected. This disease has shown to be prevalent in certain populations in recent years. Those of Ashkenazi Jewish descent are one of these populations, being more prone to the infantile form of Tay-Sachs disease, caused by a base pair insertion leading to the mutation. More research has led us to believe that compound heterozygosity is ultimately responsible for the disease’s variability among different populations. Those who are heterozygous carriers tend to exhibit abnormal enzyme activity but never show true disease symptoms. This is due to the dominance phenomenon, and with Tay-Sachs being recessive autosomal, it requires

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

People with this disorder have growth issues. They also have round faces with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears .Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the forming of the reproductive cells or in the early fetal development. Affected people typically have no history of the disorder in their family. 1 of every 50,000 babies are diagnosed at birth with Cri du Chat. All races are equally likely to develop this syndrome. It is more likely in females by a 4:3 ratio. In recent studies it was discovered that the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. There is no cure nor treatment for this because it's a chromosome deletion problem. Children with this syndrome have poor fine and gross motor skills. To help with this issue you can take physical ,occupational,and speech therapy. This will help with walking, writing,speech,and more. Women are fertile and can deliver affected offspring, with an estimated recurrence risk of 50%. Recurrence for a de novo case is 1% or

Tracheobronchomalacia is the collapse of the trachea and one or both of the bronchi. This occurs do to the softening of the cartilaginous rings. The collapse can be classified in many ways but the shape of the airway after they are affected can be classified as crescent, which is when one side of the bronchial tube is caved in which causes it to have a crescent shape, or concentric which is when all sides of the tubes collapse and it creates a circular hole in the middle in which air can pass through. When we are born, the cartilaginous rings that support our trachea and bronchial tubes are made up of hyaline cartilage. Over time these rings are supposed to go through the process of ossification and harden. When the cartilage does not harden and there is something that causes the rings to collapse onto the airway, it is classified as congenital or primary

Duane retraction syndrome (2013 ICD Code 378.71), or Stilling–Turk–Duane syndrome, is now a commonly recognized abnormality of ocular motility. The condition is considered as congenital cranial dysinnervation disorders. The incidence is approximately 0.1% part of the general population. 1% to 5% of strabismus patients are likely to have DRS of which 15% are bilateral (1)(2)(3)(4)(5). It is more common in girls (60%) than boys (40%) and left eye is three times more likely to be involved than right eye. Reason for this is unknown.

Head and Neck: Patient skull is of normocephalic, atraumatic and without masses. The patient 's facial expression and facial contours are normal. The parotid glands are normal. The sinuses are non-tender. Palpation of the temporal and masseter muscles reveals normal strength of muscle contraction. There is symmetry of the nasolabial folds. There is no facial droop noted. Trachea midline. Thyroid is smooth, no goiter or

The etiology of this disorder is trisomy of chromosome 13. Although most children do not survive longer than one year, it is one of the

Tay-Sachs is caused by a mutation in the allele that codes for a very specific enzyme (hexosaminidase-A). The mutations result in a faulty enzyme that cannot carry out its function being produced. The mutated allele for Tay-Sachs is unusually frequent amongst the Ashkenazi Jewish population (1 person in 27 are carriers, compared to 1 person in 250 in the general population). Tay-Sachs is a recessive condition, meaning that offspring must receive a copy of the mutated allele from each parent in order to inherit it.

Summary- Hallermann-Steriff Syndrome is a very rare genetic disorder that is characterized primarily by head-face abnormalities,hypotrichosis and various ophthalmic abnormalities. We report here a 14 year old boy with Hallermann-Steriff syndrome with nevus anemicus and review the literature.