{"orpha":1154,"name":"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal arthrogryposis type 5","Distal arthrogryposis type IIB","Distal arthrogryposis with ophthalmoplegia","Oculomelic amyoplasia"],"definition":"An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1154/","orphanet_url":"https://www.orpha.net/en/disease/detail/1154","names":{"fr":{"name":"Arthrogrypose avec limitation du champ oculomoteur","synonyms":["Amyoplasie oculomélique","Arthrogrypose distale type 5","Arthrogrypose distale type IIB"],"definition":"Syndrome de défaut du développement d'origine génétique caractérisé par de multiples contractures congénitales des membres, en l'absence de maladie neurologique et/ou musculaire primaire affectant le potentiel fonctionnel des membres, et des anomalies oculaires (ptosis, ophtalmoplégie externe et/ou strabisme). L'intelligence n'est pas affectée."},"de":{"name":"Syndrom der Arthrogryposis mit okulomotorischen Einschränkungen und elektroretinalen Anomalien","synonyms":["Arthrogrypose, distale, Typ 5","Arthrogrypose, distale, Typ IIB","Distale Arthrogrypose mit Ophtalmoplegie","Okulomele Amyoplasie"],"definition":"Ein vererbte syndromale Entwicklungsstörung, die durch multiple angeborene Kontrakturen der Gliedmaßen gekennzeichnet ist, ohne primäre neurologische und/oder Muskelerkrankung, die die Funktion der Gliedmaßen beeinträchtigt, und Augenanomalien (Ptosis, externe Ophthalmoplegie und/oder Strabismus). Die Intelligenz ist normal."},"es":{"name":"Síndrome de artrogriposis-limitaciones óculo-motoras-anomalías electro-retinianas","synonyms":["Amioplasia oculomélica","Artrogriposis distal con oftalmoplejía","Artrogriposis distal tipo 5","Artrogriposis distal tipo IIB"],"definition":"Es un síndrome hereditario de trastornos del desarrollo que se caracteriza por contracturas congénitas múltiples de los miembros, sin enfermedades neurológicas y/o musculares primarias que afecten la función de los miembros, y anomalías oculares (ptosis, oftalmoplejia externa y/o estrabismo). La inteligencia es normal."},"it":{"name":"Artrogriposi con limitazione oculomotoria ed anomalie dell'attività elettrica della retina","synonyms":["Amioplasia oculomelica","Artrogriposi distale con oftalmoplegia","Artrogriposi distale, tipo 5","Artrogriposi distale, tipo IIB"],"definition":"L'artrogriposi distale tipo 5 è una sindrome ereditaria da disturbo dello sviluppo caratterizzata da contratture congenite multiple degli arti, in assenza di una malattia muscolare e/o neurologica primitiva, che interessa la funzionalità degli arti, e si associa ad anomalie oculari (ptosi, oftalmoplegia esterna e/o strabismo). L'intelligenza è normale."},"nl":{"name":"Artrogrypose - oculomotorische beperkingen - elektroretinale anomalieën-syndroom","synonyms":["Distale artrogrypose met oftalmoplegie","Distale artrogrypose type 5","Distale artrogrypose type IIB","Oculomelische amyoplasie"],"definition":"Een overgeërfd syndroom met een ontwikkelingsdefect, gekarakteriseerd door multipele congenitale contracturen van ledematen, zonder primaire neurologische ziekte en/of spierziekte die de functie van ledematen beïnvloedt, en door ooganomalieën (ptose, externe oftalmoplegie en/of strabisme). De intelligentie is normaal."},"pt":{"name":"Síndrome de artrogripose-limitação oculomotora-anomalias eletroretinianas","synonyms":["Amioplasia oculomélica","Artrogripose distal tipo 5","Artrogripose distal tipo IIB"]},"pl":{"name":"Zespół artrogrypozy, ograniczonych ruchów gałek ocznych i zaburzeń czynności elektrycznej siatkówki","synonyms":["Artrogrypoza dystalna typu 5","Artrogrypoza dystalna typu IIB","Artrogrypoza dystalna z oftalmoplagią"]},"cs":{"name":"Distální artrogrypóza s oftalmoplegií","synonyms":["Distální artrogrypóza, typ 5","Distální artrogrypóza, typ IIB","Artrogrypóza s okulomotorickým omezením a elektroretinálními anomáliemi","Okulomelická amyoplázie"]},"uk":{"name":"Синдром артрогрипозу - окуломоторних обмежень - електроретинальних аномалій","synonyms":["Дистальний артрогрипоз, тип 5","Дистальний артрогрипоз типу IIB","Дистальний артрогрипоз з офтальмоплегією","Окуломелічна аміоплазія"],"definition":"An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal."},"zh":{"name":"关节挛缩-眼球运动受限-电传导异常综合征","synonyms":["远端关节弯曲伴眼肌麻痹"]},"tr":{"name":"Artrogripozis-okülomotor kısıtlılık-elektroretinal anomaliler sendromu","synonyms":["Okülomelik amiyoplazi","Distal artrogripozis tip 5","Distal artrogripozis tip IIB","Oftalmopleji ile seyreden distal artrogripozis"]}},"xrefs":[{"source":"OMIM","code":"108145","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"162950585"},{"source":"MONDO","code":"0007158","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862472","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4047","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PIEZO2","name":"piezo type mechanosensitive ion channel component 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23487782[PMID]","hgnc":"26270","ensembl":"ENSG00000154864","omim":"613629","loci":["18p11.22-p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}