{"orpha":250984,"name":"Autosomal recessive Stickler syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250984/","orphanet_url":"https://www.orpha.net/en/disease/detail/250984","names":{"fr":{"name":"Syndrome de Stickler autosomique récessif","definition":"Type rare du syndrome de Stickler caractérisé par une perte auditive neurosensorielle modérée à sévère, une forte myopie, une dégénérescence rétinienne, des malformations du vitré et une dysplasie épiphysaire. On observe également une hypoplasie du massif facial moyen, une fente palatine, ainsi que d'autres malformations squelettiques (telles qu'une platyspondylie, une scoliose et une courbure tibiale et fémorale à la naissance)."},"de":{"name":"Stickler-Syndrom, autosomal-rezessives","definition":"Eine seltene Form des Stickler-Syndroms, die durch mäßige bis schwere Schallempfindungsschwerhörigkeit, hohe Kurzsichtigkeit, Netzhautdegeneration, Glaskörperanomalien und Epiphysendysplasie gekennzeichnet ist. Mittelgesichtshypoplasie, Gaumenspalte sowie zusätzliche Skelettmanifestationen (wie Platyspondylie, Skoliose und Tibia- und Femurverkrümmung bei der Geburt) sind ebenfalls beobachtet worden."},"es":{"name":"Síndrome de Stickler autosómico recesivo","definition":"Es un tipo poco frecuente del síndrome de Stickler caracterizado por pérdida auditiva neurosensorial de moderada a profunda, miopía magna, degeneración de la retina, anomalías del vítreo y displasia epifisaria. También se ha descrito la presencia de hipoplasia del tercio medio facial, paladar hendido y otras manifestaciones esqueléticas (tales como platispondilia, escoliosis e incurvación de la tibia y del fémur al nacimiento)."},"it":{"name":"Sindrome di Stickler autosomica recessiva","definition":"Si tratta di una forma rara della sindrome di Stickler, caratterizzata da sordità neurosensoriale moderata-grave, miopia grave, degenerazione della retina, anomalie del vitreo e displasia epifisaria. I pazienti possono presentare anche ipoplasia medio-facciale, palatoschisi e altre anomalie scheletriche (platispondilia, scoliosi e incurvamento congenito della tibia e del femore)."},"nl":{"name":"Autosomaal recessief syndroom van Stickler","definition":"Een zeldzaam type van syndroom van Stickler, gekarakteriseerd door matig tot ernstig sensorineuraal gehoorverlies, hoge myopie, retinadegeneratie, anomalieën van glasachtig lichaam, en epifysaire dysplasie. Hypoplasie van middengezicht, gespleten verhemelte, alsook bijkomende manifestaties van skelet (zoals platyspondylie, scoliose, en kromstand van tibia en femur bij de geboorte) werden ook reeds waargenomen."},"pt":{"name":"Síndrome Stickler autossómica recessiva"},"pl":{"name":"Autosomalny recesywny zespół Sticklera"},"cs":{"name":"Autozomálně recesivní Sticklerův syndrom"},"uk":{"name":"Аутосомно-рецесивний синдром Стіклера","definition":"A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed."},"zh":{"name":"常染色体隐性遗传性斯蒂克勒综合征","definition":"常染色体隐性遗传性Stickler综合征是一种罕见的Stickler综合征(见该词条)，迄今为止发现于一个家族中，由COL9A1基因变异引起，与其他显性遗传性疾病一样，表现为眼科(近视、视网膜脱离和白内障)、口面部(小颌畸形、面中部发育不良和腭裂)、听觉(感觉神经性听力损失)和关节(骨骺发育不良)症状。"},"tr":{"name":"Otozomal resesif Stickler sendromu"}},"xrefs":[{"source":"OMIM","code":"614134","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620022","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1735024561"},{"source":"UMLS","code":"C5439212","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","classifications":[147,156,199]},{"orpha":828,"name":"Stickler syndrome","classifications":[147,156,189,199,200,209]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"16909383[PMID]_ 21421862[PMID]_21671392[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16909383[PMID]_ 21421862[PMID]_21671392[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-25","source":"33570243[PMID]_35241111[PMID]_31090205[PMID]_35885918[PMID]","terms":[{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007992","label":"Lattice retinal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null}]}}