{"orpha":45358,"name":"Congenital fibrosis of extraocular muscles","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FEOM"],"definition":"A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-45358/","orphanet_url":"https://www.orpha.net/en/disease/detail/45358","names":{"fr":{"name":"Fibrose congénitale des muscles oculo-moteurs","synonyms":["FEOM"],"definition":"Maladie syndromique rare avec strabisme caractérisée par une ophtalmoplégie congénitale non progressive affectant le noyau/nerf oculomoteur et/ou trochléaire et leurs muscles innervés. Les patients présentent une position de repos anormale des yeux (dans la plupart des cas, une infraduction et une exotropie), le regard vertical et horizontal limités, une altération de la vision binoculaire, une amblyopie, une blépharoptose unilatérale ou bilatérale et une position anormale compensatoire de la tête. Les anomalies extra-oculaires sont, entre autres, une déficience intellectuelle, une neuropathie périphérique et des anomalies squeletiques."},"de":{"name":"Extraokuläre Muskelfibrose, kongenitale","definition":"Eine seltene syndromale Störung mit Strabismus, die durch eine angeborene nicht-progrediente Ophthalmoplegie gekennzeichnet ist, die den Nucleus oculomotorius und/oder den Nervus trochlearis und die von ihnen innervierten Muskeln betrifft. Die Patienten zeigen eine abnorme Ruhestellung der Augen (in den meisten Fällen infraduziert und exotrop), eine Einschränkung des vertikalen und horizontalen Blicks, eine Beeinträchtigung des Binokularsehens, Amblyopie, ein- oder beidseitige Blepharoptose und eine kompensatorische abnorme Kopfhaltung. Zu den extraokularen Manifestationen gehören u. a. Intelligenzminderung, periphere Neuropathie und Skelettanomalien."},"es":{"name":"Fibrosis congénita de músculos extraoculares","synonyms":["FEOM"],"definition":"Es un trastorno sindrómico poco frecuente con estrabismo caracterizado por oftalmoplejía congénita no progresiva que afecta al núcleo/nervio oculomotor y/o troclear y sus músculos inervados. Los pacientes presentan una posición anómala de los ojos en reposo (en la mayoría de los casos infraducidos y exotrópicos), limitación de la mirada vertical y horizontal, afectación de la visión binocular, ambliopía, blefaroptosis uni-o bilateral y anomalías de la posición compensatoria de la cabeza. Las manifestaciones extraoculares incluyen discapacidad intelectual, neuropatía periférica y anomalías esqueléticas, entre otras."},"it":{"name":"Fibrosi congenita dei muscoli extraoculari","synonyms":["FEOM"],"definition":"Si tratta di una sindrome rara associata a strabismo, caratterizzata da oftalmoplegia congenita non progressiva, che interessa il nucleo/nervo oculomotore e/o trocleare e i relativi muscoli innervati. I pazienti presentano anomalie nella posizione di riposo degli occhi (nella maggior parte dei casi infraduzione ed esotropia), limitazione dello sguardo verticale e orizzontale, compromissione della visione binoculare, ambliopia, blefaroptosi mono- o bilaterale e postura compensatoria anomala della testa. I sintomi extraoculari comprendono la disabilità intellettiva, la neuropatia periferica e le anomalie scheletriche."},"nl":{"name":"Congenitale fibrose van extraoculaire spieren","synonyms":["FEOM"],"definition":"Een zeldzame syndromale aandoening met strabisme, gekarakteriseerd door congenitale niet-progressieve oftalmoplegie die nucleus/nervus oculomotorius en/of trochlearis aantast, alsook spieren geïnnerveerd door deze zenuwen. Patiënten vertonen abnormale positie van oog in rust (in de meeste gevallen infraductie en exotropie), beperking van verticale en horizontale blik, verstoord binoculair gezichtsvermogen, amblyopie, unilaterale of bilaterale blefaroptose, en abnormale stand van hoofd ter compensatie. Extraoculaire manifestaties zijn onder meer intellectuele achterstand, perifere neuropathie, en skeletanomalieën."},"pt":{"name":"Fibrose congénita dos músculos extra-oculares","synonyms":["FEOM"]},"pl":{"name":"Wrodzone zwłóknienie mięśni zewnątrzgałkowych","synonyms":["FEOM"]},"cs":{"name":"Vrozená fibróza extraokulárních svalů","synonyms":["FEOM"]},"uk":{"name":"Вроджений фіброз позаочних мязів","synonyms":["FEOM"],"definition":"A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others."},"zh":{"name":"先天性广泛眼外肌纤维化综合征","synonyms":["FEOM"]},"tr":{"name":"Ekstraoküler kasların Doğumsal fibrozu","synonyms":["FEOM"]}},"xrefs":[{"source":"OMIM","code":"135700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600638","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602078","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609384","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609428","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609612","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"887449084"},{"source":"MONDO","code":"0007614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1302995","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12590","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":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"COL25A1","name":"collagen type XXV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25500261[PMID]","hgnc":"18603","ensembl":"ENSG00000188517","omim":"610004","loci":["4q25"]},{"symbol":"KIF21A","name":"kinesin family member 21A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301522[PMID]","hgnc":"19349","ensembl":"ENSG00000139116","omim":"608283","loci":["12q12"]},{"symbol":"PHOX2A","name":"paired like homeobox 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301522[PMID]","hgnc":"691","ensembl":"ENSG00000165462","omim":"602753","loci":["11q13.4"]},{"symbol":"TUBA1A","name":"tubulin alpha 1a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33649541[PMID]","hgnc":"20766","ensembl":"ENSG00000167552","omim":"602529","loci":["12q13.12"]},{"symbol":"TUBB2B","name":"tubulin beta 2B class IIb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23001566[PMID]","hgnc":"30829","ensembl":"ENSG00000137285","omim":"612850","loci":["6p25.2"]},{"symbol":"TUBB3","name":"tubulin beta 3 class III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301522[PMID]","hgnc":"20772","ensembl":"ENSG00000258947","omim":"602661","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_9797671[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"United Kingdom","status":"Validated","source":"9797671[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-03-23","source":"24940936[PMID]_15671279[PMID]_16815872[PMID]_36360333[PMID]_18214786[PMID]_26639658[PMID]_15863670[PMID]_23378218[PMID]_23001566[PMID]","terms":[{"hpo":"HP:0030534","label":"Abnormal best corrected visual acuity test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011347","label":"Abnormality of ocular abduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000709","label":"Absent Bell phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001491","label":"Congenital fibrosis of extraocular muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000542","label":"Impaired ocular adduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012241","label":"Levator palpebrae superioris atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025721","label":"Limited vertical extraocular movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030211","label":"Slow pupillary light response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025309","label":"Abnormal pupil shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030588","label":"Abnormal visual field test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001477","label":"Compensatory chin elevation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007831","label":"Nonprogressive restrictive external ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032466","label":"Aplasia of the olfactory bulb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025186","label":"Marcus Gunn jaw winking synkinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}