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]

• Tall Stature

  Skeletal (problems tend to worsen with age) Short stature as compared to unaffected siblings Marfanoid body habitus without tall stature Hypermobility Joint laxity (becomes less prominent with age) Mild spondyloepiphyseal dysplasia Precocious osteoarthritis [en.wikibooks.org]

  Marfanoid body habitus (group of symptoms resembling Marfan syndrome, including long limbs, facial and joint abnormalities and others) but without tall stature 5 Joint laxity that becomes less prominent with age 1, 2 Abnormalities of the spine commonly [centogene.com]

  Some individuals have a physique similar to Marfan syndrome, but without tall stature. Young patients may exhibit joint laxity but it diminishes or even resolves completely with age. [encyclopedia.com]

  Patients with Marfan syndrome may have a tall stature, long extremities, arachnodactyly, kyphoscoliosis, joint hypermobility, and a crowded or high arched palate [15]. [mdpi.com]

  Skeletal manifestations are early-onset arthritis, short stature relative to unaffected sibs, and radiographic findings consistent with mild spondyloepiphyseal dysplasia. Some individuals have a slender body habitus, but without tall stature. [ncbi.nlm.nih.gov]

• Epilepsy

  Auralcephalosyndactyly Albinism, minimal pigment type Spastic paraplegia 15 Adenosine monophosphate deaminase 1 deficiency Ring chromosome 1 Lhermitte-Duclos disease Limb-girdle muscular dystrophy type 2F Flynn Aird syndrome Benign familial neonatal epilepsy [checkrare.com]

  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 ) Chen K.C....Engelbert M. 2015 38 Stickler syndrome associated with epilepsy [malacards.org]

  Variants in this gene are associated with a range of phenotypes that include generalized epilepsy with febrile seizures, early infantile epileptic encephalopathy, Dravet syndrome and intractable childhood epilepsy, severe myoclonic epilepsy of infancy [chginc.org]

  Cytopathy, Mitochondrial Myopathy, Mitochondrial Encephalomyopathy ICD 10: G731.81 Synonyme: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy [orphananesthesia.eu]

  […] gene expression profiling of the rat knee joint capsule during immobilization-induced joint contractures Kayleigh Wong, Fangui Sun, Guy Trudel, Paola Sebastiani & Odette Laneuville BMC Musculoskeletal Disorders (2015) Stickler syndrome associated with epilepsy [nature.com]

• Infertility

  This assay should be performed in conjunction with routine chromosome studies for evaluation of male infertility. [chginc.org]

  Autosomal dominant café au lait spots Cousin syndrome Muenke Syndrome UV sensitive syndrome Maternally inherited diabetes and deafness Facio thoraco genital syndrome Cryptophthalmos Meier-Gorlin syndrome Tyrosinemia type 3 Goodman syndrome Deafness-infertility [checkrare.com]

• Fever

  Osteogenesis imperfecta type II Achalasia microcephaly syndrome Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever [checkrare.com]

  Familial Mediterranean Fever (FMF) is a genetic disorder characterized by short, recurrent bouts of fever, accompanied by pain in the abdomen, chest, or joints, and an erysipelas-like erythema. [chginc.org]

• Tachycardia

  ( 2 Files ) Erkrankung : Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286 Synonyme : Catecholamine-induced polymorphic ventricular tachycardia, bidirectional [orphananesthesia.eu]

  A careful history should be taken so to elicit complaints suggestive of MVP, such as episodic tachycardia and chest pain ... [ibis-birthdefects.org]

  Cardiac care is recommended if complaints suggestive of mitral valve prolapse, such as episodic tachycardia and chest pain, are present. [encyclopedia.com]

  […] syndrome, the following evaluations are recommended: Evaluation of palate by a craniofacial specialist Baseline ophthalmologic examination Baseline audiogram Directed history to elicit complaints suggestive of mitral valve prolapse (MVP), such as episodic tachycardia [ncbi.nlm.nih.gov]

  […] dysplasia Missouri type BOR-Duane hydrocephalus contiguous gene syndrome Pelger-Huet anomaly Spastic paraplegia 32 Congenital bile acid synthesis defect, type 2 Oto-palato-digital syndrome type 2 High molecular weight kininogen deficiency His bundle tachycardia [checkrare.com]

• Dental Caries

  Salient Features Extensively revised and updated chapters Temporomandibular Joint Diseases section completely rewritten Physical and Chemical Injuries of the Oral Cavity chapter updated Extensive revision of Dental Caries and Forensic Odontology chapters [books.google.com]

  Extraocular manifestations include occipital encephalocoele, bifid ureters, dental caries, and hypermobile joints. [mdpi.com]

  ALSG syndrome is characterized by xerophthalmia and xerostomia which lead to conjunctival scarring, severe dental caries, dental erosion, and periodontal disease. [chginc.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]

• Progressive Hearing Loss

  loss or deafness and progressive vision loss. [chginc.org]

• Osteoporosis

  Sky-line view in a-7-year-old boy showed severe trochlear dysplasia with subsequent patellar mal-tacking associated with significant osteoporosis (fig 10). [medsci.org]

  Stickler syndrome type 1: a case report and review of the literature. ( 28841907 ) Higuchi Y....Tsukahara H. 2017 22 Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. ( 28060400 ) Mehta N.S....Berrocal A.M. 2017 23 Osteoporosis [malacards.org]

  […] tibial campomelia, and oligosyndactyly syndrome Midphalangeal hair Mehes syndrome Charcot-Marie-Tooth disease Salla disease Brachydactyly type C Hypocalcemia, autosomal dominant Ehlers-Danlos syndrome, hypermobility type ALG12-CDG (CDG-Ig) Juvenile osteoporosis [checkrare.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]

• 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]