{"orpha":659463,"name":"Imagawa-Matsumoto syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SUZ12-related overgrowth syndrome"],"definition":"A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre- and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases-Weaver syndrome and Cohen-Gibson syndrome- in the spectrum), they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659463/","orphanet_url":"https://www.orpha.net/en/disease/detail/659463","names":{"fr":{"name":"Syndrome de Imagawa-Matsumoto","synonyms":["Syndrome d'hypercroissance associé à SUZ12"],"definition":"Maladie rare du spectre de l'hypercroissance liée à complexe PRC-2 caractérisée par une croissance excessive généralisée avant et après la naissance, une dysmorphie (notamment une macrocéphalie, un front proéminent, un visage rond, un hypertélorisme, des fentes palpébrales orientées vers le bas et un pont nasal déprimé et large), une déficience intellectuelle, une scoliose et un excès de peau lâche. Bien qu'elles soient communes à d'autres maladies du spectre (syndrome de Weaver et syndrome de Cohen-Gibson), ces caractéristiques cliniques sont moins fréquentes. La rétrognathie, les cris rauques ou graves et le pont nasal déprimé sont généralement absents."},"de":{"name":"Imagawa-Matsumoto-Syndrom","synonyms":["SUZ12-assoziiertes Großwuchssyndrom"]},"es":{"name":"Síndrome de Imagawa-Matsumoto","synonyms":["Síndrome de sobrecrecimiento asociado a SUZ12"],"definition":"Es un trastorno poco frecuente del espectro del sobrecrecimiento relacionado con el complejo PRC-2 y caracterizado por sobrecrecimiento pre- y postnatal generalizado, rasgos dismórficos (incluyendo macrocefalia, frente prominente, cara redondeada, hipertelorismo, fisuras palpebrales de inclinación descendente y puente nasal bajo y ancho), discapacidad intelectual, escoliosis y piel excesivamente laxa. Si bien estas características clínicas se solapan con otras enfermedades del espectro (síndrome de Weaver y síndrome de Imagawa-Matsumoto), son menos frecuentes. La retrognatia, el llanto ronco/grave y el puente nasal bajo suelen estar ausentes."},"it":{"name":"Sindrome di Imagawa-Matsumoto","synonyms":["Sindrome da iperaccrescimento correlata a SUZ12"]},"nl":{"name":"Syndroom van Imagawa-Matsumoto","synonyms":["SUZ12-gerelateerd overgroeisyndroom"],"definition":"Een zeldzame PRC-2 complex-gerelateerde overgroei-spectrumstoornis, gekenmerkt door gegeneraliseerde pre- en postnatale overgroei, dysmorfe kenmerken (waaronder macrocefalie, prominent voorhoofd, rond aangezicht, hypertelorisme, schuin naar beneden hellende ooglidspleten, en lage en brede neusbrug), intellectuele achterstand, scoliose, en excessieve losse huid. Hoewel deze kenmerken worden gedeeld met andere ziekten van het spectrum, zijnde syndroom van Weaver en syndroom van Imagawa-Matsumoto), komen ze hier minder vaak voor. Retrognathie, heesheid of huilen op lage tonen, en een lage neusbrug zijn meestal afwezig."},"pt":{"name":"Síndrome Imagawa-Matsumoto","synonyms":["Síndrome de sobrecrescimento SUZ12-relacionada"]},"pl":{"name":"Zespół Imagawa-Matsumoto","synonyms":["SUZ12-related overgrowth syndrome"]},"cs":{"name":"Imagawové-Matsumotův syndrom","synonyms":["Imagawa-Matsumotův syndrom"]},"uk":{"name":"Синдром Імагави-Мацумото","synonyms":["Синдром надмірного росту, повязаний з SUZ12"]}},"xrefs":[{"source":"OMIM","code":"618786","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":659387,"name":"PRC-2 complex-related overgrowth spectrum","classifications":[147,156,181,199]}],"children":[],"genes":[{"symbol":"SUZ12","name":"SUZ12 polycomb repressive complex 2 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30019515[PMID]","hgnc":"17101","ensembl":"ENSG00000178691","omim":"606245","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"28229514[PMID]_30019515[PMID]_31736240[PMID]_ 39258127[PMID]_38850627[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28229514[PMID]_30019515[PMID]_31736240[PMID]_ 39258127[PMID]_38850627[PMID]_ORPHANET"}],"phenotypes":null}