When was stickler syndrome discovered

Charles Mayo in Sticker studied the family and in with colleagues described what they called hereditary progressive arthro-ophthalmopathy in 5 generations of this family. Um, well no. I have stickler syndrome and I definitely have not got downs thank you very much!

Stickler syndrome is not a genetic condition related to any race. Nor is it more prominant in one sex or the other. The normal amount of time, life expectancy is NOT affected by sticklers syndrome. Wendy Hughes has written: '6 to 8 fun book' 'Ten years on' -- subject s : Stickler Syndrome Support Group, Stickler syndrome '9 to 10 fun book'.

This syndrome lasts for the life of the person. As they get older, the look of it becomes less apparent. Since it is a genetic problem, it is difficult to find treatments. It is inherited disorder caused by mutations in certain genes involved in formation of a protein called collagen. Joshua Stickler's birth name is Joshua H.

Jacobsen syndrome was first discovered by petra jacobsen a danish physician. Aase syndrome. Langer0Giegion syndrome was discovered and described by L. Langer and A. Hans Selye was the psychologist who discovered the General Adaptation Syndrome.

Friedrich Stickler was born in Dick Stickler was born in Skip auxiliary navigation Press Enter. Skip main navigation Press Enter. Toggle navigation. Stickler Syndrome. Print Version What is Stickler Syndrome? What are the features of Stickler Syndrome? What causes Stickler Syndrome? How is Stickler Syndrome Inherited? How is Stickler Syndrome diagnosed? How is Stickler Syndrome treated? Where is there more information about Stickler Syndrome? Medical treatment by the pediatrician or primary care physician may be beneficial for the associated precocious osteoarthritis.

Patients are particularly at risk of developing a Giant retinal tear GRT , which typically occurs during Posterior vitreous detachment. Associated retinal detachments are notoriously difficult to manage and patients are prone to development of Proliferative vitreoretinopathy PVR. Prophylactic treatment of peripheral retina using degree cryotherapy or circumferential laser appears may be effective in reducing rates of retinal detachment.

Both treatment modalities have been retrospectively compared to observation and both are apparently effective in significantly decreasing risk of retinal detachment; however, neither modality has been shown to be superior to the other. Patients with associated open-angle glaucoma may require surgical intervention. The availability of published data to guide management in such cases is limited; however, glaucoma in Stickler syndrome is presumed to be related to anterior segment dysgenesis and therefore angle surgery Goniotomy or Trabeculotomy may be beneficial.

Filtering procedures remain viable options for refractory cases. As noted above, the typical cataract found in Stickler syndrome is of a congenital quadratic lamellar type. Patients are at an increased risk of both vitreous loss and post-operative retinal detachment; retinal breaks should be addressed prior to cataract surgery. Untreated patients and patients who have undergone prophylactic cryotherapy or laser remain at increased lifetime risk of retinal detachment.

Patients who have undergone operative repair of retinal detachment similarly remain at risk for re-detachment and all patients should be monitored regularly on a long-term basis. Patients undergoing glaucoma angle or filtering procedures and patients undergoing cataract extraction require routine follow up. There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis.

Ocular and systemic abnormalities are progressive and the rate of significant disability from blindness, hearing loss and crippling arthritis would be expected to increase with increasing age.

Create account Log in. Main page. Getting Started. Recent changes. View form. View source. Stickler Syndrome From EyeWiki. Redirected from Stickler syndrome. Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed.

These will tend to worsen with age. Several facial features are common with Sticklers syndrome. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities are possible, all in varying degrees.

Patients usually do not have all symptoms that can be attributed to Stickler syndrome. As an example, a patient may only have joint problems, another person will have sight and arthritis problems, and members of the same family may have different symptoms. Some patients may have multiple symptoms, but only one problem is severe enough to be diagnosed.