{"orpha":254519,"name":"Kagami-Ogata syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KOS"],"definition":"Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254519/","orphanet_url":"https://www.orpha.net/en/disease/detail/254519","names":{"fr":{"name":"Syndrome de Kagami-Ogata","synonyms":["KOS"],"definition":"Maladie génétique rare caractérisée par un polyhydramnios (principalement dû à une placentomégalie), une macrosomie foetale, des malformations de la paroi abdominale, des malformations squelettiques (thorax en forme de cloche, côtes en portemanteau et réduction du rapport transversal et frontal du diamètre thoracique dans la petite enfance), des difficultés à s'alimenter et des troubles de la déglutition, une dysmorphie faciale (front hirsute, joues pleines, philtrum saillant, micrognathie), un retard de développement et une déficience intellectuelle. D'autres caractéristiques peuvent être une cyphoskoliose, des contractures articulaires, un diastasis recti, une hypotonie musculaire. Il existe un risque accru d'hépatoblastome."},"de":{"name":"Kagami-Ogata-Syndrom","synonyms":["KOS"]},"es":{"name":"Síndrome de Kagami-Ogata","synonyms":["KOS"],"definition":"Es una enfermedad genética poco frecuente caracterizada por polihidramnios (principalmente debido a placentomegalia), macrosomía fetal, defectos de la pared abdominal, anomalías esqueléticas (que incluyen tórax acampanado, costillas en forma de percha y disminución de la proporción diámetro transverso-frontal torácico en la infancia), dificultades en la alimentación y trastorno de la deglución, rasgos dismórficos (frente velluda, mejillas llenas, filtrum prominente, micrognatia), retraso en el desarrollo y discapacidad intelectual. Otras características adicionales pueden incluir cifoescoliosis, contracturas articulares, diástasis de rectos e hipotonía muscular. Existe un mayor riesgo de hepatoblastoma."},"it":{"name":"Sindrome di Kagami-Ogata","synonyms":["MCA da difetto di espressione dei geni materni in 14q32.2"],"definition":"La sindrome di Kagami-Ogata è una malattia genetica rara, caratterizzata da polidramnios (secondario per lo più alla placentomegalia), macrosomia fetale, difetti della parete addominale, anomalie scheletriche (torace a campana, costole a forma di appendiabiti e diminuzione del rapporto tra il diametro trasverso e quello antero-posteriore nella prima infanzia), difficoltà di alimentazione e deglutizione, dismorfismi facciali (ipertricosi della fronte, guance paffute, filtro prominente, micrognazia), ritardo dello sviluppo e disabilità intellettiva. Altri segni clinici comprendono la cifoscoliosi, le contratture articolari, la diastasi dei muscoli retti e l'ipotonia muscolare. I pazienti sono a rischio di epatoblastoma."},"nl":{"name":"Syndroom van Kagami-Ogata","synonyms":["KOS"],"definition":"Syndroom van Kagami-Ogata is een zeldzame, genetische ziekte die wordt gekarakteriseerd door polyhydramnion (meestal als gevolg van placentamegalie), foetale macrosomie, defecten van de buikwand, skeletafwijkingen (waaronder klokvormige thorax, ribben in de vorm van een kleerhanger en een verminderde ratio van de frontale tot transversale diameter van de thorax in de zuigelingentijd), voedingsproblemen en slikstoornissen, dysmorfe kenmerken (behaard voorhoofd, volle wangen, uitstekend filtrum, micrognathie), ontwikkelingsachterstand en intellectuele achterstand. Mogelijke bijkomende kenmerken zijn onder meer kyfoscoliose, gewrichtscontracturen, rectus-diastase, en musculaire hypotonie. Er is een verhoogd risico op hepatoblastoom."},"pt":{"name":"Anomalias congénitas múltiplas por anomalia nos genes de expressão materna localizados em 14q32.2","synonyms":["MCA por anomalia nos genes de expressão materna localizados em 14q32.2"]},"pl":{"name":"Mnogie wady wrodzone z powodu ekspresji matczynego wadliwego genu 14q32.2","synonyms":["MCA z powodu ekspresji matczynego wadliwego genu 14q32.2"]},"cs":{"name":"Mnohočetné vrozené anomálie způsobené defektem maternální exprese 14q32.2","synonyms":["MCA způsobená maternálně vyjádřeným defektem genu 14q32.2"]},"uk":{"name":"Синдром Кагамі-Огата","synonyms":["КОС"],"definition":"Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma."},"zh":{"name":"Kagami-Ogata综合征","synonyms":["KOS"],"definition":"Kagami-Ogata综合征是一种罕见的遗传性疾病，其特征是羊水过多(主要是由于胎盘增大)、胎儿巨大儿、腹壁缺损、骨骼异常(包括钟状胸、衣架肋，婴儿时期胸肋宽径比的降低)、喂养困难和吞咽障碍、畸形特征(额头多毛、面颊丰满、人中突出、小颌畸形)、发育迟缓和智力障碍。其他特征可能包括脊柱侧弯畸形、关节挛缩、腹直肌分离、肌肌张力低下。患肝母细胞瘤的风险增加。"},"tr":{"name":"Kagami-Ogata sendromu","synonyms":["KOS"]}},"xrefs":[{"source":"OMIM","code":"608149","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016779","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":254534,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation","type":"Etiological subtype"},{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion","type":"Etiological subtype"},{"orpha":96334,"name":"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"],"via":{"orpha":96334,"name":"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"}},{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"],"via":{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"}},{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"],"via":{"orpha":254534,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"}},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"],"via":{"orpha":96334,"name":"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"}},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"],"via":{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"}},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"],"via":{"orpha":254534,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"}},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"],"via":{"orpha":96334,"name":"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"}},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"],"via":{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"}},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"],"via":{"orpha":254534,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":84.0,"area":"Worldwide","status":"Validated","source":"28640239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28640239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-03","source":"25689926[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006665","label":"Coat hanger sign of ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011335","label":"Frontal hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000205","label":"Pursed lips","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}