It's present in the jelly of the eye called the vitreous, it's also important for the inner ear structures for transmitting sounds to the brain and also it's present in the spine as well because the spine also has highland cartilage around the bodies [abc.net.au]

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]

• Inguinal Hernia

  Clinical manifestations include: -progressive mental deterioration -coarsening of facial features -clouding of the corneas -organomegaly -skeletal dysplasia with joint contractures -inguinal hernias -thick coarse hair and bushy eyebrows This severe form [quizlet.com]

• Abnormal Teeth

  The pedigree showed autosomal dominant inheritance, normal stature but diminished sweating, and abnormal teeth. Hair and nails were normal. [jmg.bmj.com]

• Hepatosplenomegaly

  Abdomen enlarged secondary to hepatosplenomegaly and evidence of dysostosis multiplex Speech and Hunter syndrome -articulaton becomes sluggish because the tongue becomes enlarged and the palate and aveolar ridges thickened, preventing normal tongue placement [quizlet.com]

• Freckles

  […] can cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy [quizlet.com]

  The phenotype associated with NFLS consists of multiple café-au-lait macules, axillary freckling, and macrocephaly. Some patients also have learning disabilities. [chginc.org]

• Axillary Freckling

  […] can cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy [quizlet.com]

  The phenotype associated with NFLS consists of multiple café-au-lait macules, axillary freckling, and macrocephaly. Some patients also have learning disabilities. [chginc.org]

• Cafe-Au-Lait Spots

  […] can cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy [quizlet.com]

• Hearing Impairment

  impairment Huygen, PLM; Pennings, RJE; Cremers, CWRJ Hearing impairment in Stickler syndrome: a systematic review Acke, FR; Dhooge, IJ; Malfait, F; Leenheer, EM Effects of age on the distortion product otoacoustic emission growth functions Gates, GA; [deepdyve.com]

  Other features include cleft palate, premature arthritis, shallow eye sockets, a short lower jaw, and some hearing impairment (type I). The hearing deficit in type II tends to be more severe and hearing aids are more commonly needed. [disorders.eyes.arizona.edu]

  […] and Hunter syndrome -degree of HL typically not severe and may be conductive, sensorineural, or mixed, although profound sensorineural impairment has been reported in isolated cases -as chronic congestion becomes more severe, conductive hearing loss [quizlet.com]

  Auditory symptoms Hearing impairment is common, and some degree of sensorineural hearing loss is found in 40% of patients. The degree of hearing impairment is variable, however, and may be progressive. [encyclopedia.com]

• Arthralgia

  Showing of 21 | 80%-99% of people have these symptoms Arthralgia Joint pain 0002829 Cleft palate 0000175 Long philtrum 0000343 Malar flattening Zygomatic flattening 0000272 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms [rarediseases.info.nih.gov]

• Low Nasal Root

  Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Glaucoma 0000501 Joint hypermobility Double-Jointed Flexible joints Increased [rarediseases.info.nih.gov]

• Hypesthesia

  Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss and microtia Mosaic trisomy 9 Heart-hand syndrome, Slovenian type X-linked creatine deficiency Lethal chondrodysplasia Seller type Corneal hypesthesia [checkrare.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

• 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]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment Treatment Options: Patients with type II Stickler disease need lifelong ophthalmologic monitoring because of the risk of retinal detachments and cataracts with treatment as indicated. [disorders.eyes.arizona.edu]

The prognosis for a normal lifespan is good. [disorders.eyes.arizona.edu]

Prognosis - Stickler syndrome- type 2 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]

Prognosis Prognosis is good under physician care. It is particularly important to receive regular vision and hearing exams. If retinal detachment is a risk, it may be advisable to avoid contact sports. [encyclopedia.com]

Scheuermann’s juvenile kyphosis: clinical appearance, radiology, aet-iology and prognosis. Copenhagen: Munksgaard, 1964. 54 Freed LA, Levy D, Levine RA, Larson MG, Evans JC, Fuller DL et al. Prevalence and clinical outcome of mitral valve prolapse. [nature.com]

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 of retinal detachment. ( 25817961 ) Vilaplana F....Mojal S. 2015 37 Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography. ( 26245341 [malacards.org]

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]

The pathophysiology of the spinal abnormalities in Stickler syndrome has not been fully defined. [medsci.org]

The exact pathophysiological mechanism is unclear; however it is most probably associated with the expression of type II and IX collagen in the inner ear 2, 4. [centogene.com]

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]

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]

Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter. [mayoclinic.org]

As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]

Prevention - Stickler syndrome- type 2 Not supplied. Diagnosis - Stickler syndrome- type 2 Not supplied. Prognosis - Stickler syndrome- type 2 Not supplied. [checkorphan.org]

[…] three-dimensional ultrasound and three-dimensional helical computer tomography in the prenatal diagnosis of Stickler Syndrome. ( 30251283 ) Gueneuc A...Ville Y 2018 15 The importance of early diagnosis of Stickler syndrome: Finding opportunities for preventing [malacards.org]