{"orpha":233,"name":"Duane retraction syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DRS","DURS","Duane syndrome","Stilling-Turk-Duane syndrome"],"definition":"A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-233/","orphanet_url":"https://www.orpha.net/en/disease/detail/233","names":{"fr":{"name":"Syndrome de Duane","synonyms":["DRS","DURS","Syndrome de Stilling-Turk-Duane","Syndrome de rétraction de Duane"],"definition":"Maladie rare de dysinnervation des nerfs crâniens oculaires caractérisée par une limitation du mouvement horizontal de l'oeil, une rétraction du globe et un rétrécissement des fentes palpébrales en adduction."},"de":{"name":"Duane-Retraktionssyndrom","synonyms":["DRS","DURS","Duane-Syndrom","Stilling-Turk-Duane-Syndrom"],"definition":"Eine angeborene Störung der Augeninnervation, die gekennzeichnet ist durch eingeschränkte horizontale Beweglichkeit der Augen, retrahierten Bulbus und Verengung der Lidspalten bei versuchter Adduktion."},"es":{"name":"Síndrome de retracción de Duane","synonyms":["DRS","DURS","Síndrome de Duane","Síndrome de Stilling-Turk-Duane"],"definition":"Es una forma congénita de estrabismo caracterizada por un movimiento ocular horizontal limitado acompañado de retracción del globo ocular y estrechamiento de la fisura palpebral en el intento de aducción. Es un trastorno de denervación craneal congénita ocular (CCDD) y puede provocar ambliopía."},"it":{"name":"Sindrome della retrazione di Duane","synonyms":["DRS","DURS","Sindrome di Duane","Sindrome di Stilling-Turk-Duane"],"definition":"La sindrome della retrazione di Duane (DRS) è una forma congenita di strabismo, caratterizzata dalla limitazione dei movimenti oculari orizzontali, associata alla retrazione del globo e al restringimento delle rime palpebrali nel tentativo di adduzione. Si tratta di una malattia da disinnervazione oculare cranica congenita (CCDD) e può esitare nell'ambliopia."},"nl":{"name":"Duane-retractiesyndroom","synonyms":["DRS","DURS","Syndroom van Duane","Syndroom van Stilling-Turk-Duane"],"definition":"Een zeldzame, oculaire congenitale craniale denervatiestoornis, gekarakteriseerd door beperkte horizontale oogbeweging vergezeld van retractie van oogbol en vernauwing van ooglidspleet bij poging tot adductie."},"pt":{"name":"Síndrome de retração Duane","definition":"Doença ocular congénita rara de disinervação craniana caracterizada por limitação do movimento horizontal dos olhos, acompanhada de retração do globo ocular e estreitamento da fissura palpebral durante a tentativa de adução."},"pl":{"name":"Zespół retrakcji Duane'a","synonyms":["DRS","DURS","Zespół Duane'a","Zespół Stillinga, Turka i Duane'a"],"definition":"Zespół retrakcji Duane’a (DRS) jest wrodzoną formą zeza charakteryzującą się ograniczeniem ruchu gałek ocznych w płaszczyźnie poziomej, retrakcją gałki ocznej i szpary powiekowej przy próbie przywodzenia. Spowodowany jest zaburzeniem rozwoju nerwu przywodzącego i może prowadzić do amblyopii."},"cs":{"name":"Duaneův retrakční syndrom","synonyms":["DRS","DURS","Duanův syndrom","Stillingův-Turkův-Duanův syndrom","Duanův retrakční syndrom","Stilling-Turk-Duanův syndrom"]},"uk":{"name":"Синдром ретракції Дуейна","synonyms":["DRS","Синдром Дуейна","DURS","Синдром Стіллінга-Турека-Дуена"],"definition":"A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction."},"zh":{"name":"眼球后退综合征","synonyms":["Stilling-Turk-Duane综合征"]},"tr":{"name":"Duane retraksiyon sendromu","synonyms":["DRS","DURS","Duane sendromu","Stilling-Turk-Duane sendromu"]}},"xrefs":[{"source":"OMIM","code":"126800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604356","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616219","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"617041","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H50.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9C82.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"482830550"},{"source":"MONDO","code":"0007473","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013261","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6288","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013799","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"MAFB","name":"MAF bZIP transcription factor B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27181683[PMID]","hgnc":"6408","ensembl":"ENSG00000204103","omim":"608968","loci":["20q12"]},{"symbol":"CHN1","name":"chimerin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18653847[PMID]","hgnc":"1943","ensembl":"ENSG00000128656","omim":"118423","loci":["2q31.1"]},{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23687435[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Not yet validated","source":"ISBN:3642022014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-11","source":"20301369[PMID]","terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009921","label":"Duane anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000634","label":"Impaired ocular abduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000542","label":"Impaired ocular adduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007818","label":"Central heterochromia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031705","label":"Compensatory head posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100274","label":"Gustatory lacrimation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007990","label":"Hypoplastic iris stroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025186","label":"Marcus Gunn jaw winking synkinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011386","label":"Narrow internal auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011365","label":"Patchy hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}