{"orpha":1471,"name":"Sorsby syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Coloboma of macula-brachydactyly type B syndrome"],"definition":"A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1471/","orphanet_url":"https://www.orpha.net/en/disease/detail/1471","names":{"fr":{"name":"Syndrome de Sorsby","synonyms":["Syndrome de colobome maculaire-brachydactylie type B"],"definition":"Syndrome malformatif rare, caractérisé par la combinaison d'un colobome maculaire bilatéral associé à un nystagmus pendulaire horizontal et une cécité sévère, ainsi qu'une brachydactylie de type B. Les anomalies des mains et des pieds comprennent un raccourcissement des phalanges médianes et terminales des doigts 2 à 5, des ongles hypoplasiques ou absents (anonychie congénitale), des pouces et des gros orteils larges ou bifides, une syndactylie et des déformations en flexion des articulations de certains doigts."},"de":{"name":"Sorsby-Syndrom","synonyms":["Makulakolobom-Brachydaktylie Typ B-Syndrom"],"definition":"Ein seltenes angeborenes Fehlbildungssyndrom, das durch die Kombination eines beidseitigen Makulakoloboms mit horizontalem Pendelnystagmus und schwerem Sehverlust sowie Brachydaktylie Typ B gekennzeichnet ist. Die Hand- und Fußdefekte umfassen eine Verkürzung der Mittel- und Endphalangen der zweiten bis fünften Finger, hypoplastische oder fehlende Nägel (angeborene Anonychie), breite oder gespaltene Daumen und Großzehen, Syndaktylie und Beugefehlstellung der Gelenke einiger Finger."},"es":{"name":"Síndrome de Sorsby","synonyms":["Síndrome de coloboma macular-braquidactilia tipo B"],"definition":"Es un síndrome poco frecuente de malformaciones congénitas caracterizado por la combinación de coloboma bilateral de la mácula con nistagmo pendular horizontal y pérdida visual grave, y braquidactilia tipo B. Los defectos de manos y pies comprenden acortamiento de las falanges media y terminal del segundo al quinto dedo, hipoplasia o ausencia de uñas (anoniquia congénita), pulgares y hallux anchos o bífidos, sindactilia y deformidades en flexión de las articulaciones de algunos dedos."},"it":{"name":"Sindrome di Sorsby","synonyms":["Sindrome coloboma maculare-brachidattilia tipo B"]},"nl":{"name":"Syndroom van Sorsby","synonyms":["Maculacoloboom - brachydactylie type B-syndroom"],"definition":"Een zeldzaam congenitaal malformatiesyndroom, gekenmerkt door de combinatie van bilateraal maculacoloboom met horizontale pendelnystagmus en ernstig verlies van gezichtsvermogen, en brachydactylie type B. Afwijkingen van handen en voeten bestaan uit abnormaal korte middelste en terminale falangen van tweede tot vijfde vingers/tenen, hypoplastische of afwezige nagels (congenitale anonychie), brede of bifide duimen en halluces, syndactylie, en flexiemisvormingen van gewrichten in sommige vingers/tenen."},"pt":{"name":"Síndrome de coloboma macular-braquidactilia tipo B","synonyms":["Síndrome Sorsby"]},"pl":{"name":"Szczelina plamki - brachydaktylia typu B","synonyms":["Zespół Sorsby"],"definition":"Rzadki zespół wrodzonych wad rozwojowych, który charakteryzuje się współwystępowaniem obustronnej szczeliny (coloboma) plamki żółtej z oczopląsem wahadłowym poziomym, ciężkim niedowidzeniem i brachydaktylią typu B. Wady dłoni i stóp obejmują skrócenie środkowych i dalszych paliczków drugiego - piątego palca, niedorozwój lub brak paznokci (wrodzona anonychia), szerokie lub rozdwojone kciuki i paluchy, syndyktylię i deformacje zgięciowe stawów niektórych palców."},"cs":{"name":"Syndrom zahrnující kolobom makuly a brachydaktylii typu B","synonyms":["Sorsbyho syndrom"]},"uk":{"name":"Синдром колобоми макули-брахідактилії типу В","synonyms":["Синдром Сорсбі"],"definition":"A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits."},"zh":{"name":"黄斑缺损-B型短指综合征","synonyms":["Sorsby综合征"]},"tr":{"name":"Makula kolobomu-brakidaktili tip B sendromu","synonyms":["Sorsby sendromu"]}},"xrefs":[{"source":"OMIM","code":"120400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1755788361"},{"source":"MONDO","code":"0007353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852752","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":716422,"name":"Rare disorder with non-progressive predominantly macular disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"3385739[PMID]_12919145[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3385739[PMID]_12919145[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005831","label":"Type B brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}