Presentation
High myopia was present in 19 pts. [omicsonline.org]
The book highlights the etiopathogenesis and clinical presentation of oral diseases and focuses on a variety of diseases commonly encountered in clinical practice. [books.google.com]
This is the first clinical case report on the adult presentation of Stickler syndrome type III. [link.springer.com]
Depression or prominence of the chest bone may be present. Face: Children with Stickler Syndrome present with characteristic facial features like flat cheekbones, flat nose, long upper lip and small chin. [medindia.net]
Ears
- Hearing Impairment
Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review. Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Hearing impairment in Stickler syndrome: a systematic review. [ghr.nlm.nih.gov]
Showing of 21 | 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Cleft palate Cleft roof of mouth 0000175 Long philtrum 0000343 Malar flattening Zygomatic flattening 0000272 Sensorineural hearing impairment 0000407 30%-79% of people [rarediseases.info.nih.gov]
"Hearing impairment in Stickler syndrome". Adv Otorhinolaryngol. 61 : 216–23. PMID 12408087. ^ a b Nowak CB (1998). "Genetics and hearing loss: a review of Stickler syndrome". [en.wikipedia.org]
Musculoskeletal
- Arthralgia
Showing of 21 | 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Cleft palate Cleft roof of mouth 0000175 Long philtrum 0000343 Malar flattening Zygomatic flattening 0000272 Sensorineural hearing impairment 0000407 30%-79% of people [rarediseases.info.nih.gov]
Workup
Due to the retrospective nature of our study, the lack of a genetic workup and family evaluation, we were unable to analyze the pattern of inheritance in the study cohort. [dovepress.com]
Ultrasound
- Ovarian Mass
Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]
Treatment
The data analysis included demographic information, family history of SS, systemic disease status, prior ocular treatment, ocular symptoms, clinical features and treatment methods. [omicsonline.org]
Many professionals that are most likely to be involved in the treatment of those with Stickler's Syndrome, include craniofacial surgeons, ear/nose/and throat specialists, ophthalmologists, audiologists & rheumatologists. [signssymptoms.org]
[…] that are most likely to be involved in the treatment of those with Stickler's Syndrome, include craniofacial surgeons, ear/nose/and throat specialists, ophthalmologists, audiologists and rheumatologists. [medigest.uk]
Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]
Prognosis
Prognosis - Stickler syndrome- type 3 Not supplied. [checkorphan.org]
Prognosis 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. [eyewiki.aao.org]
What is the Prognosis of Stickler Syndrome? Stickler Syndrome does not affect the life expectancy of an individual. Once diagnosed, the doctor and the patient's parents can take proactive steps to monitor any abnormality and promptly correct it. [medindia.net]
Galil et al. (1991) described the physical, motor, cognitive, and academic development of a child with WZS from birth to the age of 8 years and suggested a more favorable prognosis for both physical and psychomotor development than previously reported [genome.jp]
Therefore, it is empirical to delineate the underlying pathology because the prognosis of skeletal dysplasias compared with the several causations of hip deformities requires prompt indication for a precise therapeutic intervention is more guarded [ 18 [medsci.org]
Etiology
Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion [3], though a significant number of cases may be sporadic. [2] Risk Factors The only known risk factor for Stickler syndrome is a family history of the condition [eyewiki.aao.org]
Some of the subjects in this group have been further investigated by means of reformatted CT scan to understand the etiology behind their early onset spine stiffness. [medsci.org]
Epidemiology
Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. Robin NH et al. Stickler Syndrome. GeneReviews® 2000 June 9 (Updated 2014 Nov 26) [asperbio.com]
Epidemiology [ edit ] In the US, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people, but it can affect as few as 1 in 100,000 in other areas of the world. [ citation needed ] History [ edit ] Scientists associated with the discovery [en.wikipedia.org]
Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004; 41 :47–52. [ PubMed : 14697070 ] Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. [ncbi.nlm.nih.gov]
Pathophysiology
Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]
The pathophysiology of the spinal abnormalities in Stickler syndrome has not been fully defined. [medsci.org]
Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [2] Normal collagen fibrils are composed of three [eyewiki.aao.org]
Prevention
Conclusions: Prophylactic treatments such scleral buckle and laser and cryotherapy prevented the development of retinal tears or detachment in pts with Stickler syndrome. [omicsonline.org]
As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]
Prevention - Stickler syndrome- type 3 Not supplied. Diagnosis - Stickler syndrome- type 3 Not supplied. Prognosis - Stickler syndrome- type 3 Not supplied. [checkorphan.org]
Tracheostomy is another surgical intervention, in which respiratory difficulties a tube is positioned at the opening of the neck to prevent respiratory difficulties. [ehealthhall.com]
Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]