ipl-logo

Treacher Collins Syndrome

80 Words1 Page

Treacher Collins syndrome is a genetic disorder that affects the development of craniofacial. It results abnormalities in face and head due to hypoplasia of facial structures such as the lower jaw (mandible), cheekbones and abnormal small chin micrognathia. In addition, some patients with this syndrome are also born with an abnormal opening in the roof of the mouth (cleft palate), but in severe cases, hypoplasia of the facial bones may restrict the infant’s airway of breathing causing life-threatening respiratory

Show More
Related

  • Ms. Morgan's Case Report

    725 Words  | 3 Pages

    Investigator saw Ms. Morgan in jail at the Orleans Justice Center after she was arrested and charged with cruelty to a juvenile. Ms. Morgan admitted to doing ecstasy and xanbars while disciplining her children. She admitted to hitting her daughter in the mouth because she would not shut up and that was getting on her nerves. Dr. Shelia Thompson noted that Thianna had a forensic medical on 7/18/17 and forensic interview on7/13/2017. Dr. Thompson noted during the medical incident history Thianna makes clear disclosure of physical abuse by mom including mom recently punching her a few times in the eye because the patient was crying.

    Read More

  • Fred Hollows Eye Disease

    243 Words  | 1 Pages

    Professional Fred Hollows was an eye doctor who spent his whole life helping those people who couldn’t afford or have access to basic eye care. He worked really hard to try and end blindness with the goal to improve the health of Indigenous Australians. In Fred’s working career he was a man who was quick to recognise a problem and even quicker to act and find a solution to the issue. One of his quotes is: 'When I 've seen an opportunity, I haven 't sat down and called a committee meeting...

    Read More

  • Abraham Lincoln Marfan Syndrome

    981 Words  | 4 Pages

    Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”.

    Read More

  • Rett's Syndrome Research Paper

    1299 Words  | 6 Pages

    Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s

    Read More

  • Familial Dysautonomia Research Paper

    879 Words  | 4 Pages

    Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.

    Read More

  • Charles Bonnet Syndrome Analysis

    850 Words  | 4 Pages

    Charles Bonnet Syndrome (CBS) is a form of visual hallucination. Although it is not quite a known disorder worldwide, it affects many people. One may have normal cognition and no psychological ailment but still be diagnosed with Charles Bonnet Syndrome. Also, contrary to popular belief, it is not merely the imagination of the individual affected. Yeager (2013) stated that during the hallucination, insight is still intact; the individual registers that the hallucinations are not real.

    Read More

  • Making A Child With Trisomy 18 Or Edwards Syndrome

    494 Words  | 2 Pages

    Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible.

    Read More

  • Krost And Henshaw: Article Analysis

    641 Words  | 3 Pages

    There are multiple facial features that will occur when a child has FAS, however these symptoms will vary from child to child and depend on the severity of the condition. Children who suffer from FAS may have an extremely thin upper lip, smooth skin between the upper lip and the nose, a small, upturned nose, and small eyes. Other deformities can include slow physical growth after birth, vision and hearing struggles, deformities of the joints, limbs and fingers, have a small head and small brain size, heart defects, skeletal issues, and digestive

    Read More

  • Barlow Syndrome Research Paper

    457 Words  | 2 Pages

    Barlow Syndrome, Mitral Valve Prolapse, Floppy Valve Syndrome, and Myxomatous Mitral Valve are just some of the names that Barlow Syndrome goes by. Barlow syndrome is when the valve between your heart 's left upper chamber (left atrium) and the left lower chamber (left ventricle) doesn’t close properly causing the heart to work extra hard. Major causes are mutation in the DCH1 gene. This gene helps organize how cells are patterned into tissue. Harvard Medical School found it located on chromosome 11 but other sources have found it on 16 and 13 along with 11.

    Read More

  • Biography Of Grady Franklin Stiles Jr.

    2355 Words  | 10 Pages

    Grady Franklin Stiles Jr. may have been his birth name, but Grady Jr. was more frequently referred to as “Lobster Boy.” Grady Franklin Stiles Jr. was born on June 26, 1937 in Pittsburgh, Pa., with the genetic deformity ectrodactyly. Ectrodactyly is an inherited condition that can affect the fingers and the toes. Individuals with this condition are born with fingers and toes that are fused together, causing these extremities to resemble a claw: Hence his stage name, “Lobster Boy.” Grady Jr. was the sixth generation to be born with this condition, which started in 1805 with William Stiles.

    Read More

  • Cleft Palate: A Case Study

    923 Words  | 4 Pages

    Case history, oral peripheral exam and hearing screening are necessary components in the assessment process as each provides vital information regarding the child's medical and surgical history as well as current condition of oral structures and functioning of the ear. In addition to providing details regarding medical and surgical history, the case history will also alert the clinician to any previous treatment obtained and its effectiveness. The oral peripheral examination provides the opportunity for the clinician to assess the degree to which structural abnormalities affect the child's physical ability to manipulate the articulators. If a repair of the cleft has already been performed, the clinician should assess the adequacy of the repair (Pena-Brooks & Hegde,

    Read More

  • Moebius Syndrome Analysis

    1103 Words  | 5 Pages

    Treatment of the Moebius syndrome patients: Diagnostic procedure and therapeutic approaches call for a multidisciplinary engagement by a team of specialists that includes a pediatrician, a general surgeon, a plastic surgeon, an orthopedic surgeon, an oral and maxillofacial surgeon, an ophthalmologist, an otolaryngologist, occupation and physical therapists, an audiologist, a speech pathologist and a dentist. 13 According to the National Institute of Neurological Disorders and Stroke, National Institutes of Health 37 , there is no specific regimen for treatment of Moebius syndrome patients. Medical care is typically supportive and is related to symptoms. Infants may require feeding tubes or special bottles to maintain sufficient

    Read More

  • Treacher Collins Syndrome In Wonder, By R. J. Palacio

    786 Words  | 4 Pages

    The movie, Wonder, illustrates what life is like for Auggie, a young boy born with major facial deformation, who is starting 5th grade after being homeschooled his entire life. This movie is based off of the book written by R.J. Palacio. The story brings light to Treacher Collins Syndrome, the disease Auggie was born with; his story shares what many others born with the disease face. “Treacher Collins is an extremely rare congenital cranial facial disorder. It affects just one in 50,000 people” (Wonder Boy).

    Read More

  • Wolf Hirschhorn Syndrome Case Study

    500 Words  | 2 Pages

    A 3 month old boy presents to with a history of reoccurring seizures. A physical examination shows that he is underweight. The appearance and head measurements show that he has growth deficiency and microcephaly. He shows characteristics of facial dimorphism a “Greek helmet” like face, his eyes are widely spaced with high arched eyebrows and micrognathia and club foot. The mother explains that she has been trouble feeding him.

    Read More

  • Christopher Boone Asperger's Syndrome

    1640 Words  | 7 Pages

    Does Christopher Boone have Asperger’s Syndrome? Although the author, Mark Haddon, makes a point to never explain Christopher’s condition, it is very clear that he has some form of developmental disorder. Based on the details given in the novel, I have determined that Christopher has Asperger’s Syndrome. Asperger’s is considered a Pervasive Developmental Disorder or Autism Spectrum Disorder that delays the development of many basic skills, especially those related to communication and socialization (WebMD).

    Read More

More about Treacher Collins Syndrome

Open Document