Treacher Collins Syndrome Analysis

Asymmetry of the orbits leads to strabismus [crossed eye] (Craniosynostosis). Intracranial pressure can develop if the baby has Complex Synostosis, and can affect the baby in various ways, like a full or bulging fontanelle [soft spot located on the top of the head], sleepiness [or less alert than usual], increased irritability, poor feeding, projectile vomiting, seizures, bulging eyes, development delays, blindness, eye movement disorders, cognitive impairment [affects memory or thinking skills], or in rare instances, death. The risk of intracranial pressure from simple synostosis is small, as long as the suture and head shape are fixed surgically. Doctors cannot predict which children will develop this pressure problem; however, with more than one suture fused, the likelihood of increased pressure is higher. Surgery is typically the recommended treatment because the physician can reduce the pressure in the head and correct the deformities of the face and skull bones, but some children may not require surgery (Craniosynostosis).

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,

The mutations in the mtDNA are not always associated with a respiratory chain abnormality, even though all 3 primary LHON-causing mtDNA mutations affect complex 1 subunit genes of the respiratory chain. This means that even though a patient may not show any signs of defect of

August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school .

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

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.

Topical care can include antiseptic solutions or ointments that act as disinfectants. Fluid replacement and nutrition is critical for healing, and the majority of patients are unable to drink and eat, they may receive fluids through a nasogastric or gastric tube. Due to the risk of eye problems, an ophthalmologist is consulted to evaluate the

Crouzon syndrome is an autosomal dominant genetic disorder and is the most common craniosynostosis syndrome with an incidence of 16.5/1,000,000, representing 4.8% of craniosynostosis cases, and a prevalence of 1/60,000 in the U.S. Crouzon syndrome is caused by an activating mutation of the FGFR2 gene, an important factor in the conversion of the fibrous joint areas between sutures to bone. Specifically, the missense mutation occurs within exons IIIa and exon IIIc of the extracellular immunoglobulin domain, IgIII, in 95% of Crouzon patients. Generally, cysteine residues are replaced, preventing critical disulfide bond formation and ultimately cause spatiotemporal malformations. There are at least 32 documented unique mutations, 30-60% of which are sporadic, spontaneous mutations.

A three year-old boy was born with facial deformities as the result of a prenatal complication. He was born with a hole in his face, which was where his nose was supposed to be. He was also born without an upper jaw and eyes. The little boy, whose name is Yahya, was shielded from other people by his parents.

TCS mainly affects the bones of the face, but it also affects how a person can breathe. That is why some people have holes in their throats with machines in them (tracheostomies); it is there to help them breathe. This disorder also may affect how a person swallows. If they cannot swallow food correctly then they will have a tube that goes into their stomach and food can be fed through there (gastrostomy).

Saethre-Chotzen syndrome is a craniosynostosis which the main clinical feature is the presence of uni/bi-lateral coronal synostosis. Other facial clinical features are strabism, bulgy eyes and small sized ears with a peculiar prominent cus. Patients can also present syndactily of digits with various severities.

This section contains a summary of the article “Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics.” In his introduction, Dr. Wenghoefer claimed that “between 1990 and 2005 there were 51 cases of holoprosencephaly (HPE)” (The Cleft Palate Craniofacial Journal). This information was provided from various ultrasounds. In the 51 cases of holoprosencephaly there were also other malformations associated with those fetuses. “Holoprosencephaly (HPE) is a malformation of intracranial and midfacial structures in humans, which occurs in 5 to 12 in 10,000 live births” (The Cleft Palate Craniofacial Journal). HPE has a possibility that it may be linked to some sort of syndrome or some sort of defect as well.

Goldenhar Syndrome also known as oculoauriculovertebral dysplasia is a craniofacial syndrome which causes abnormalities in the formation of the face and head. It was first documented in 1952 by Maurice Goldenhar, which is how it earned its name. It is a rare congenital disease that is apparent at birth. “Goldenhar Syndrome happens in one in every 3,000 to 5,000 births” (The Childrens Hospital of Philidelphia, 2016). This syndrome usually only affects one side of the face, but 10% of cases effects both sides.

Imagine that you have a hole in your lip and an extremely deformed head. Then, think that thousands of people have to live with it and is all because of early fusion of skull bones it does it because it stops growing early which makes the brain and other parts of the head grow weirdly. The major cause is mutation in the FGFR3 gene in the 4th chromosome. The symptoms are a cleft lip and palate; it is where you have a hole in your lip and your palate.