This is the first clinical case report on the adult presentation of Stickler syndrome type III. [link.springer.com]

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]

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]

• Weakness

  Some people with Stickler syndrome also have mitral valve prolapse (a weakness in one of the heart valves). [my46.org]

  People with the childhood-onset type usually develop muscle weakness in adolescence while the adult-onset type usually develop muscle weakness between ages 20 and 50. This assay may be ordered alone or as part of the Ashkenazi Jewish panel. [chginc.org]

  (Gly318Arg) [22], and the same gene has also been found to have a weak association with an increased risk of rhegmatogenous retinal detachment in the general population [23]. [mdpi.com]

  […] phosphorylase kinase deficiency Eisenmenger syndrome Seckel like syndrome Majoor-Krakauer type Medulloblastoma Birt-Hogg-Dube syndrome Epidermolysa bullosa simplex with muscular dystrophy Familial hemiplegic migraine type 1 Distal myopathy with vocal cord weakness [checkrare.com]

• Developmental Delay

  He showed mild motor developmental delay with delayed walking. Poor vision and hearing were noted when he started attending school. Family history was unremarkable. [hindawi.com]

  Mild to severe developmental delay/regression is also commonly seen. [chginc.org]

  Michels Caskey syndrome Acrofacial dysostosis Catania type Colpocephaly Peutz-Jeghers syndrome Degos disease Hair defect with photosensitivity and mental retardation Absent breasts and nipples Alexander disease Tollner Horst Manzke syndrome Pili torti developmental [checkrare.com]

• Disproportionate Short Stature

  A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal [abcam.com]

  Kneist dysplasia is a disorder that manifests in disproportionate short stature, flat facial profile, myopia and vitreoretinal degeneration, cleft palate, backward and lateral curvature of the spine, and a variety of radiographic changes. [encyclopedia.com]

• Dysphagia

  […] associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia [orphananesthesia.eu]

  […] lipodystrophy associated with PPARG mutations Saul Wilkes Stevenson syndrome Cartilage-hair hypoplasia Nguyen syndrome Glanzmann thrombasthenia Jacobsen syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Charcot-Marie-Tooth disease type 2B Odontoma dysphagia [checkrare.com]

  ALS patients with C9orf72 expansions are more likely to have Parkinsonism and bulbar findings (dysphagia, dysarthria). Some individuals with repeat expansions in C9orf72 also develop frontotemporal dementia (FTD). [chginc.org]

• Failure to Thrive

  […] to gain weight, and failure to thrive. [chginc.org]

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Diarrhea

  Landau-Kleffner syndrome Tetrasomy 9p Brachydactylous dwarfism Mseleni type Synovial chondromatosis, familial with dwarfism Florid cemento-osseous dysplasia Optic atrophy polyneuropathy deafness 2-methylbutyryl-CoA dehydrogenase deficiency Congenital chloride diarrhea [checkrare.com]

• Mitral Valve Prolapse

  Some people with Stickler syndrome also have mitral valve prolapse (a weakness in one of the heart valves). [my46.org]

  […] and found that none had mitral valve prolapse. [jmg.bmj.com]

  Scoliosis Mitral Valve Prolapse (45-50%) - occurs when the heart valve shuts and then protrudes into the next chamber. [en.wikibooks.org]

  valve prolapse * Aphakia * Long philtrum * Glossoptosis * Pectus carinatum * Long thin fingers * Elongated extremities * Reduced subcutaneous fat * Heart defect * Mental retardation * Displacement of the larynx Causes - Stickler syndrome- type 2 At least [checkorphan.org]

• Hypertension

  SNHL 20 dB N/T Height: 1.58 m Diabetes mellitus, hypertension 1/II-1 43 y R507X/R507X 0.6/0.5 −6.25/−8.00 (24 y)† Cataract extraction (32 y), axial length 25 mm‡, vitreous membranes; VR adhesions; paravascular retinal degeneration, retinoschisis; Goldmann [iovs.arvojournals.org]

  People with eye involvement are prone to increased pressure within the eye ( ocular hypertension ) which could lead to glaucoma and tearing or detachment of the light-sensitive retina of the eye ( retinal detachment ). [en.wikipedia.org]

  […] dysplasia x-linked with mental 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 [checkrare.com]

• Prolapse

  Some people with Stickler syndrome also have mitral valve prolapse (a weakness in one of the heart valves). [my46.org]

  […] and found that none had mitral valve prolapse. [jmg.bmj.com]

  Scoliosis Mitral Valve Prolapse (45-50%) - occurs when the heart valve shuts and then protrudes into the next chamber. [en.wikibooks.org]

  […] pain * Partial dislocation of hip * Spondyloepiphyseal dysplasia * Flat vertebrae * Underdevelopment of distal tibial epiphyses * Flat irregular femoral epiphyses * Narrow shafts in long bones * Secondary degeneration of joint surfaces * Mitral valve prolapse [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]

  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]

  Discussion STL type 1 is a rare autosomal dominant condition with characteristic ophthalmological and orofacial features, hearing impairment, and mild spondyloepiphyseal dysplasia. [hindawi.com]

• Arthritis

  Arthritis can also be treated by specialists and cleft palates can be surgically repaired. The prognosis for a normal lifespan is good. [disorders.eyes.arizona.edu]

  Type IV: Severe hearing and vision loss, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis. [my.clevelandclinic.org]

  Sometimes anti-inflammatory medications can be helpful in treating arthritis or joint problems, in severe cases surgical replacements of joints may be necessary. Thanks for your feedback! [verywell.com]

  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. [1] Stickler syndrome is caused by genetic changes ( mutations [rarediseases.info.nih.gov]

  All can get arthritis-like symptoms and some in each type may have cleft palate. [dbproject.mn.org]

• Joint Dislocation

  Affected individuals may have abnormally flexible or lax (hypermobile) joints (double jointedness) that may make them prone to joint dislocation. As affected individuals age, such flexibility becomes reduced. [rarediseases.org]

  dislocations, GPAPP type Lipoid proteinosis of Urbach and Wiethe Infantile-onset ascending hereditary spastic paralysis Spondyloepimetaphyseal dysplasia x-linked with mental deterioration Limb-girdle muscular dystrophy Palmoplantar keratoderma-sclerodactyly [checkrare.com]

  severe joint hypermobility, and significant joint dislocations. [chginc.org]

• 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]

• Pierre Robin Syndrome

  A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. [en.wikipedia.org]

  Midline clefting (bifid uvula, submucous cleft, high arch palate, cleft repair, Pierre Robin sequence). [jmg.bmj.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]

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]

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]

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]

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]

A note from Cleveland Clinic Stickler syndrome can affect each person differently and the symptoms can range in severity, but the diagnosis does not affect overall life expectancy and the majority of cases have a positive prognosis. [my.clevelandclinic.org]

[…] dysplasia upon radiographic evaluation, scoliosis, or kyphosis) Craniofacial features (eg, flat facial profile/midface hypoplasia or cleft palate, sometimes with Pierre Robin sequence) Genetics Genes COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN Etiology [arupconsult.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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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(1):47–52. https://doi.org/10.1597/02-055. [bmcmedgenet.biomedcentral.com]

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]

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]

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]

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

You can’t prevent Stickler syndrome since it’s the result of an inherited genetic mutation. [my.clevelandclinic.org]

The best course of action to prevent serious complications involves: early diagnosis quick treatment in the event of a retinal detachment prevention of a retinal tear Blindness is one of the most severe and disabling complications associated with Stickler [healthline.com]

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]