{"orpha":85194,"name":"Spondylo-ocular syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85194/","orphanet_url":"https://www.orpha.net/en/disease/detail/85194","names":{"fr":{"name":"Syndrome spondylo-oculaire","definition":"Association très rare de signes d'atteinte vertébrale et oculaire, caractérisée par des cataractes denses et un décollement de la rétine, ainsi que par une ostéoporose généralisée et une platyspondylie. Une légère dysmorphie craniofaciale à type de cou court, de macrocéphalie et de proéminence de l'arcade sourcilière, a été observée."},"de":{"name":"Spondylo-okuläres Syndrom"},"es":{"name":"Síndrome espondilo-ocular","definition":"Es una asociación muy poco frecuente de manifestaciones espinales y oculares caracterizada por cataratas densas y desprendimiento de retina acompañado de osteoporosis generalizada y platispondilia. Se ha descrito leve dismorfia craneofacial que incluye cuello corto, cabeza grande y cejas prominentes."},"it":{"name":"Sindrome spondilo-oculare","definition":"La sindrome spondilo-oculare è una malattia molto rara che associa segni clinici a livello della colonna e degli occhi. È caratterizzata da cataratta densa, distacco della retina, osteoporosi generalizzata e platispondilia. Sono stati osservati pazienti con lievi dismorfismi craniofacciali, compresi il collo corto, la macrocefalia e le sopracciglia prominenti."},"nl":{"name":"Spondylo-oculair syndroom","definition":"Spondylo-oculair syndroom is een zeer zeldzame associatie van spinale en oculaire manifestaties, en wordt gekarakteriseerd door dense cataracten en netvliesloslating, samen met gegeneraliseerde osteoporose en platyspondylie. Er werd ook milde craniofaciale dysmorfie gerapporteerd, met onder meer korte nek/hals, groot hoofd en prominente wenkbrauwen."},"pt":{"name":"Síndrome espondilo-ocular"},"pl":{"name":"Zespół kręgowo-oczny"},"cs":{"name":"Spondylookulární syndrom"},"uk":{"name":"Спондилоокулярний синдром","definition":"Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows."},"zh":{"name":"脊柱-眼综合征"},"tr":{"name":"Spondilo-oküler sendrom"}},"xrefs":[{"source":"OMIM","code":"605822","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1611450426"},{"source":"MONDO","code":"0011604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":519294,"name":"Syndromic microspherophakia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"XYLT2","name":"xylosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26027496[PMID]","hgnc":"15517","ensembl":"ENSG00000015532","omim":"608125","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"11260210[PMID]_16470687[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11260210[PMID]_16470687[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11260210[PMID]","terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008063","label":"Aplasia/Hypoplasia of the lens","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}