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Stickler Syndrome Type 2

STL2


Presentation

  • 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]
  • Case presentations We have used Multiplex Ligation-Dependent Probe Amplification (MLPA) in conjunction with exon amplification and sequencing, to analyze patients with clinical features of Stickler syndrome, and have detected six novel deletions that[repository.cam.ac.uk]
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]
Coarse Facial Features
  • facial features, failure to thrive in infancy, short stature, curly/sparse fine hair, facial and/or perianal papillomata, loose soft skin with deep palmar and plantar creases, and developmental delay/ intellectual disability.[chginc.org]
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]
Abnormal Teeth
  • The pedigree showed autosomal dominant inheritance, normal stature but diminished sweating, and abnormal teeth. Hair and nails were normal.[jmg.bmj.com]
Corneal Opacity
  • The symptoms of Stickler syndrome may vary but include near-sightedness ( myopia ), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. 0000518 Corneal opacity 0007957 Myopia Close sighted Near[rarediseases.info.nih.gov]
Long, Thin Fingers
  • thin fingers * Elongated extremities * Reduced subcutaneous fat * Heart defect * Mental retardation * Displacement of the larynx Causes - Stickler syndrome- type 2 At least 19 different types of collagen have been identified.[checkorphan.org]
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]
  • […] phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy confirmation of neurofibroma (scoliosis is also a relatively common musculoskeletal findnig) -Hearing[quizlet.com]
  • […] of the middle of the face, and the development of arthritis at a young age. 0000518 Corneal opacity 0007957 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Retinal detachment Detached retina 0000541 Sensorineural hearing[rarediseases.info.nih.gov]
  • 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]
Low Nasal Root
  • nasal root [ more ] 0005280 Glaucoma 0000501 Joint hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Long fingers 0100807 Malar flattening Zygomatic flattening 0000272 Micrognathia Little lower jaw Small jaw Small[rarediseases.info.nih.gov]
Mental Deterioration
  • 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]
  • deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension Acral peeling[checkrare.com]

Workup

  • 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]

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]
  • 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 There is no cure for Stickler syndrome but many treatments and therapies exist for managing the symptoms of Stickler syndrome.[verywell.com]

Prognosis

  • Prognosis - Stickler syndrome- type 2 Not supplied.[checkorphan.org]
  • The prognosis for a normal lifespan is good.[disorders.eyes.arizona.edu]
  • 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

  • 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

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

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]
  • 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]
  • Prevention - Stickler syndrome- type 2 Not supplied. Diagnosis - Stickler syndrome- type 2 Not supplied. Prognosis - Stickler syndrome- type 2 Not supplied.[checkorphan.org]
  • 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]
  • As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention.[eyewiki.aao.org]

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