{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FCMD","FKTN-related congenital muscular dystrophy","Fukuyama congenital muscular dystrophy"],"definition":"A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-272/","orphanet_url":"https://www.orpha.net/en/disease/detail/272","names":{"fr":{"name":"Dystrophie musculaire congénitale type Fukuyama","synonyms":["Dystrophie musculaire congénitale liée à FKTN","FCMD"],"definition":"Dystrophie musculaire congénitale progressive rare, souvent caractérisée par une malformation du cerveau (lissencéphalie pavimenteuse), des changements dystrophiques dans les muscles squelettiques, une déficience intellectuelle sévère, une épilepsie et une déficience motrice."},"de":{"name":"Muskeldystrophie, kongenitale, Typ Fukuyama","synonyms":["FCMD","Fukuyama-Muskeldystrophie"],"definition":"Eine kongenitale progrediente Muskeldystrophie, die häufig durch Fehlbildungen des Gehirns (,,Kopfsteinpflaster''-Lissenzephalie), dystrophische Veränderungen der Skelettmuskulatur, schwere intellektuelle Beeinträchtigungen, Epilepsie und motorische Störungen gekennzeichnet ist."},"es":{"name":"Distrofia muscular congénita tipo Fukuyama","synonyms":["Distrofia muscular congénita de Fukuyama","FCMD"],"definition":"Es una distrofia muscular progresiva congénita poco frecuente que suele caracterizarse por una malformación cerebral (lisencefalia en empedrado), cambios distróficos en el músculo esquelético, déficit intelectual grave, epilepsia y afectación motora."},"it":{"name":"Distrofia muscolare congenita, tipo Fukuyama","synonyms":["Distrofia muscolare congenita di Fukuyama","FCMD"]},"nl":{"name":"Congenitale spierdystrofie, Fukuyama-type","synonyms":["CMD, Fukuyama-type","FCMD","FKTN-gerelateerde congenitale spierdystrofie"],"definition":"Een zeldzame congenitale progressieve spierdystrofie, vaak gekenmerkt door malformatie van hersenen (cobblestone-lissencefalie), dystrofische veranderingen van skeletspier, ernstige intellectuele achterstand, epilepsie, en motorische functiestoornis."},"pt":{"name":"Distrofia muscular congénita, tipo Fukuyama","synonyms":["Distrofia muscular congénita FKTN-relacionada","Distrofia muscular congénita Fukuyama","FCMD"],"definition":"Uma distrofia muscular progressiva congénita rara, frequentemente caracterizada por malformação cerebral (lisencefalia tipo II ou de <i>cobblestone<i>), alterações distróficas no músculo esquelético, défice intelectual grave, epilepsia e deficiência motora."},"pl":{"name":"Wrodzona dystrofia mięśniowa typu Fukuyamy","synonyms":["FCMD","Wrodzona dystrofia mięśniowa Fukuyamy"]},"cs":{"name":"Vrozená svalová dystrofie, Fukuyamův typ","synonyms":["FCMD","Fukuyamova vrozená svalová dystrofie"]},"uk":{"name":"Вроджена мязова дистрофія, тип Фукуями","synonyms":["FCMD","Вроджена мязова дистрофія, повязана з FKTN","Вроджена мязова дистрофія Фукуями"],"definition":"A rare congenital progressive muscular dystrophy often characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment."},"zh":{"name":"福山型先天性肌营养不良症","synonyms":["福山型先天性肌营养不良症"]},"tr":{"name":"Doğumsal kas distrofisi, Fukuyama tipi","synonyms":["FCMD","Fukuyama Doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"253800","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1547688117"},{"source":"MONDO","code":"9678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410174","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","classifications":[147,156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","classifications":[156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"FKTN","name":"fukutin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301385[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Japan","status":"Validated","source":"20301385[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"20301385[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030046","label":"Hypoglycosylation of alpha-dystroglycan","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007260","label":"Type II lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}