{"orpha":828,"name":"Stickler syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary progressive arthroophthalmopathy"],"definition":"A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-828/","orphanet_url":"https://www.orpha.net/en/disease/detail/828","names":{"fr":{"name":"Syndrome de Stickler","synonyms":["Arthro-ophtalmoplégie héréditaire progressive"],"definition":"Groupe rare de maladies génétiques du tissu conjonctif caractérisées par des anomalies ophtalmiques, auditives, orofaciales et articulaires. Les deux principales formes cliniques se distinguent par le phénotype vitréen ; Stickler type 1 par un gel vitréen à l'état vestigial dans l'espace rétrolental immédiat, bordé d'une membrane plissée distincte, et Stickler type 2 par des faisceaux de fibres épars et irrégulièrement épaissis dans toute la cavité vitréenne."},"de":{"name":"Stickler-Syndrom","synonyms":["Arthro-Ophthalmopathie, hereditäre progressive"],"definition":"Eine seltene Gruppe genetisch bedingter Bindegewebserkrankungen, die durch ophthalmische, auditive, orofaziale und artikuläre Manifestationen gekennzeichnet sind. Die beiden klinischen Hauptformen unterscheiden sich klinisch durch den Phänotyp des Glaskörpers: Stickler-Typ 1 durch ein rudimentäres Glaskörpergel im unmittelbaren retrolentalen Raum, das von einer deutlich gefalteten Membran begrenzt wird, und Stickler-Typ 2 durch spärliche und unregelmäßig verdickte Glaskörperbündel in der gesamten Glaskörperhöhle."},"es":{"name":"Síndrome de Stickler","definition":"Es un grupo poco frecuente de trastornos genéticos del tejido conectivo caracterizado por manifestaciones oftalmológicas, auditivas, orofaciales y articulares. Las dos formas principales se distinguen clínicamente por el fenotipo del vítreo; el síndrome de Stickler tipo 1 se caracteriza por una persistencia de gel vítreo vestigial en el espacio retrolental inmediato, delimitado por una membrana plegada distintiva, y el tipo 2 por haces dispersos de fibras irregularmente engrosados en toda la cavidad vítrea."},"it":{"name":"Sindrome di Stickler","synonyms":["Artro-oftalmoplegia ereditaria progressiva"],"definition":"Si tratta di un gruppo di malattie genetiche rare del tessuto connettivo, caratterizzate da sintomi oculari, uditivi, orofacciali e articolari. Le due forme cliniche principali si differenziano, dal punto di vista clinico, per il fenotipo vitreo: la sindrome di Stickler tipo 1 è caratterizzata da un gel vitreo vestigiale nell'immediato spazio retrolentale, delimitato da una membrana ripiegata, mentre la sindrome di Stickler tipo 2 è caratterizzata da fasci di fibre radi eirregolarmente ispessiti all'interno della cavità del vitreo."},"nl":{"name":"Syndroom van Stickler","synonyms":["Erfelijke progressieve artro-oftalmopathie"],"definition":"Een zeldzame groep van genetische aandoeningen van bindweefsel, gekenmerkt door oftalmische, auditieve, orofaciale, en articulaire manifestaties. De twee voornaamste vormen worden klinisch onderscheiden door het fenotype van het glasachtig lichaam: syndroom van Stickler type 1 vertoont een rudimentair glasachtig lichaam in de ruimte direct achter de lens, begrensd door een typisch gevouwen membraan, en syndroom van Stickler type 2 vertoont schaarse en onregelmatig verdikte vezelbundels doorheen de glasvochtholte."},"pt":{"name":"Síndrome Stickler","synonyms":["Artro-oftalmopatia hereditária progressiva"],"definition":"Grupo de doenças genéticas do tecido conjuntivo, raro, caracterizado por manifestações oftalmológicas, auditivas, orofaciais e articulares. As duas principais formas clínicas distinguem-se pelo fenótipo do corpo vítreo; Stickler tipo 1 por um gel vítreo vestigial no espaço retrolental imediato, delimitado por uma membrana pregueada distinta, e Stickler tipo 2 por feixes de fibras em toda a cavidade vítrea, agregados, esparsos e irregularmente espessos."},"pl":{"name":"Zespół Sticklera","synonyms":["Hereditary progressive arthroophthalmopathy"]},"cs":{"name":"Sticklerův syndrom","synonyms":["Arthrophthalmopatia progressiva hereditaria"]},"uk":{"name":"Синдром Стіклера","synonyms":["Спадкова прогресуюча артроофтальмопатія"],"definition":"A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity."},"zh":{"name":"Stickler综合征","synonyms":["遗传性进行性关节与眼病"]},"tr":{"name":"Stickler sendromu","synonyms":["Kalıtsal ilerleyici artrooftalmopati"]}},"xrefs":[{"source":"OMIM","code":"108300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604841","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609508","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614134","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"246271691"},{"source":"MONDO","code":"0019354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10782","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063402","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":166011,"name":"Multiple epiphyseal dysplasia, Beighton type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":138041,"name":"Pierre Robin syndrome associated with collagen disease","classifications":[147,156,200,209]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[{"orpha":250984,"name":"Autosomal recessive Stickler syndrome","type":"Clinical subtype"},{"orpha":90653,"name":"Stickler syndrome type 1","type":"Clinical subtype"},{"orpha":90654,"name":"Stickler syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COL9A2","name":"collagen type IX alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21671392[PMID]","hgnc":"2218","ensembl":"ENSG00000049089","omim":"120260","loci":["1p34.2"],"via":{"orpha":250984,"name":"Autosomal recessive Stickler syndrome"}},{"symbol":"COL9A3","name":"collagen type IX alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24273071[PMID]","hgnc":"2219","ensembl":"ENSG00000092758","omim":"120270","loci":["20q13.33"],"via":{"orpha":250984,"name":"Autosomal recessive Stickler syndrome"}},{"symbol":"BMP4","name":"bone morphogenetic protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30568244[PMID]","hgnc":"1071","ensembl":"ENSG00000125378","omim":"112262","loci":["14q22.2"],"via":{"orpha":90654,"name":"Stickler syndrome type 2"}},{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"],"via":{"orpha":90654,"name":"Stickler syndrome type 2"}},{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9800905[PMID]_21671392[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"],"via":{"orpha":90653,"name":"Stickler syndrome type 1"}},{"symbol":"COL9A1","name":"collagen type IX alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2217","ensembl":"ENSG00000112280","omim":"120210","loci":["6q13"],"via":{"orpha":250984,"name":"Autosomal recessive Stickler syndrome"}},{"symbol":"LOXL3","name":"lysyl oxidase like 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25663169[PMID]","hgnc":"13869","ensembl":"ENSG00000115318","omim":"607163","loci":["2p13.1"],"via":{"orpha":250984,"name":"Autosomal recessive Stickler syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.2,"area":"Worldwide","status":"Not yet validated","source":"20301479[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-20","source":"16152640[PMID]_32867104[PMID]_20301479[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007992","label":"Lattice retinal degeneration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031153","label":"Membranous vitreous appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006461","label":"Proximal femoral epiphysiolysis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011530","label":"Retinal hole","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003302","label":"Spondylolisthesis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031154","label":"Beaded vitreous appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010290","label":"Short hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null}]}}