{"orpha":659396,"name":"Cohen-Gibson syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["EED-related overgrowth syndrome"],"definition":"A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases-Weaver syndrome and Imagawa-Matsumoto syndome in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659396/","orphanet_url":"https://www.orpha.net/en/disease/detail/659396","names":{"fr":{"name":"Syndrome de Cohen-Gibson","synonyms":["Syndrome d'hypercroissance associé à EED"],"definition":"Maladie rare du spectre de l'hypercroissance liée à complexe PRC-2 caractérisée par une grande taille, une déficience intellectuelle (plus grave que dans d'autres maladies du spectre, telles que le syndrome de Weaver et le syndrome d'Imagawa-Matsumoto), une dysmorphie persistante (notamment hypertélorisme, grandes oreilles charnues, rétrognathie, pli entre la bouche et le menton) restant visibles à l'âge adulte, des troubles musculo-squelettiques sévères (notamment cyphose et/ou scoliose, anomalies de la colonne cervicale, mobilité articulaire réduite et mains anormalement grandes). Les cardiopathies, la cryptorchidie et les hernies ombilicales sont plus fréquentes que dans d'autres maladies du spectre, tandis que le développement de tumeurs est moins courant."},"de":{"name":"Cohen-Gibson-Syndrom","synonyms":["EED-assoziiertes Großwuchssyndrom"]},"es":{"name":"Síndrome de Cohen-Gibson","synonyms":["Síndrome de sobrecrecimiento asociado a EED"],"definition":"Es un trastorno poco frecuente del espectro del sobrecrecimiento relacionado con el complejo PRC-2 y caracterizado por talla alta, discapacidad intelectual (más grave que en otras enfermedades del espectro, como el síndrome de Weaver y el síndrome de Imagawa-Matsumoto), rasgos dismórficos persistentes (que incluyen hipertelorismo, orejas grandes y carnosas, retrognatia y pliegue entre la boca y el mentón) que se mantienen visibles en la edad adulta, y graves anomalías musculoesqueléticas (que incluyen cifosis y/o escoliosis, anomalías de la columna cervical, limitación del movimiento articular y manos inusualmente grandes). Las cardiopatías, la criptorquidia y las hernias umbilicales son más frecuentes que en otras enfermedades del espectro, mientras que el desarrollo de tumores es menos común."},"it":{"name":"Sindrome di Cohen-Gibson","synonyms":["Sindrome da iperaccrescimento correlata a EED"]},"nl":{"name":"Syndroom van Cohen-Gibson","synonyms":["EED-gerelateerd overgroeisyndroom"],"definition":"Een zeldzame PRC-2 complex-gerelateerde overgroei-spectrumstoornis, gekenmerkt door lange gestalte, intellectuele achterstand (ernstiger dan bij andere zieken van dit spectrum, syndroom van Weaver en syndroom van Imagawa-Matsumoto), persisterende dysmorfe kenmerken (waaronder hypertelorisme, grote oorlellen, retrognathie, plooi tussen mond en kin) die zichtbaar blijven in de volwassenheid, ernstige musculoskeletale afwijkingen (waaronder kyfose en/of scoliose, afwijkingen van de cervicale wervelkolom, beperkte gewrichtsbewegingen en abnormaal grote handen). Hartproblemen, cryptorchisme en navelbreuk komen vaker voor, terwijl de aanwezigheid van tumoren minder vaak optreedt in vergelijking met andere ziekten van het spectrum."},"pt":{"name":"Síndrome Cohen-Gibson","synonyms":["Síndrome de sobrecrescimento EED-relacionada"]},"pl":{"name":"Zespół Cohena-Gibsona","synonyms":["EED-related overgrowth syndrome"]},"cs":{"name":"Cohenové-Gibsonův syndrom","synonyms":["Cohen-Gibsonův syndrom"]},"uk":{"name":"Синдром Коена-Гібсона","synonyms":["Синдром надмірного росту, повязаний з EED"]}},"xrefs":[{"source":"OMIM","code":"617561","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060510","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"60510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4479654","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":"EED","name":"embryonic ectoderm development","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30793471[PMID]","hgnc":"3188","ensembl":"ENSG00000074266","omim":"605984","loci":["11q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"34533271[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34533271[PMID]_ORPHANET"}],"phenotypes":null}