{"orpha":597738,"name":"Luscan-Lumish syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SETD2-related overgrowth syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597738/","orphanet_url":"https://www.orpha.net/en/disease/detail/597738","names":{"fr":{"name":"Syndrome de Luscan-Lumish","synonyms":["Syndrome de croissance excessive associé à SETD2"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, d'origine génétique, caractérisé par un phénotype variable qui comprend macrocéphalie, croissance post-natale excessive, ossification avancée du carpe, obésité, retard de parole, déficience intellectuelle, troubles du spectre de l'autisme, problèmes comportementaux avec crises d'agressivité et dysmorphie faciale variable. Des convulsions, des anomalies structurelles du cerveau, ainsi que diverses autres manifestations telles que des otites moyennes récurrentes, une hypermobilité articulaire, un hirsutisme ou un nævus, ont également été rapportées."},"de":{"name":"Luscan-Lumish-Syndrom","synonyms":["LLS","SETD2-assoziiertes Großwuchs-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch einen variablen Phänotyp gekennzeichnet ist, der Makrozephalie, postnatales Überwachstum, fortgeschrittene Verknöcherung der Handwurzel, Adipositas, Sprachverzögerung, Intelligenzminderung, Autismus-Spektrum-Störungen und Verhaltensschwierigkeiten mit aggressiven Ausbrüchen sowie variable Gesichtsdysmorphien umfasst. Auch Krampfanfälle, strukturelle Anomalien des Gehirns sowie eine Vielzahl anderer Erscheinungsformen wie rezidivierende Otitis media, Gelenkhypermobilität, Hirsutismus oder Naevi wurden berichtet."},"es":{"name":"Síndrome de Luscan-Lumish","synonyms":["Síndrome de sobrecrecimiento asociado a SETD2"],"definition":"Es un síndrome dismórfico/de anomalías congénitas múltiples, poco frecuente y de origen genético, caracterizado por un fenotipo variable que incluye macrocefalia, sobrecrecimiento posnatal, osificación carpiana avanzada, obesidad, retraso en el habla, discapacidad intelectual, trastornos del espectro autista y trastornos de conducta con episodios de agresividad y dismorfia facial variable. También se han descrito crisis epilépticas y anomalías estructurales del cerebro, así como una variedad de otras manifestaciones como otitis media recurrente, hipermovilidad de las articulaciones, hirsutismo o nevos."},"it":{"name":"Sindrome di Luscan-Lumish","synonyms":["Sindrome da iperaccrescimento correlata a SETD2"]},"nl":{"name":"Syndroom van Luscan-Lumish","synonyms":["SETD2-gerelateerd overgroeisyndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door een variabel fenotype met onder meer macrocefalie, postnatale overgroei, gevorderde carpale ossificatie, obesitas, spraakachterstand, intellectuele achterstand, autismespectrumstoornissen, en gedragsproblemen met agressieve uitbarstingen, en variabele faciale dysmorfie. Insulten, structurele afwijkingen van de hersenen, alsook verschillende andere manifestaties zoals recidiverende middenoorontsteking, gewrichtshypermobiliteit, hirsutisme, of naevi werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome Luscan-Lumish","synonyms":["Síndrome de sobrecrescimento SETD2-relacionada"],"definition":"Síndrome genética dismórfica/de anomalias congénitas múltiplas, rara, caracterizada por um fenótipo variável que inclui macrocefalia, sobrecrescimento pós-natal, avanço da ossificação do carpo, obesidade, atraso na linguagem, perturbação do desenvolvimento intelectual, perturbação do espectro do autismo e dificuldades comportamentais com explosões agressivas e dismorfias facial variáveis. Convulsões, anomalias estruturais do cérebro, bem como uma variedade de outras manifestações, como otite média recorrente, hipermobilidade articular, hirsutismo ou naevi também foram reportados."},"pl":{"name":"Zespół Luscan i Lumish","synonyms":["Zespół nadmiernego wzrostu związany z SETD2"],"definition":"Rzadki genetycznie uwarunkowany zespół mnogich wad wrodzonych/zespół dysmorficzny charakteryzujący się zmiennym fenotypem, który obejmuje wielkogłowie, przerost poporodowy, zaawansowane kostnienie nadgarstka, otyłość, opóźnienie mowy, niepełnosprawność intelektualną, zaburzenia ze spektrum autyzmu oraz zachowania z wybuchami agresji oraz zmienną dysmorfię twarzy. Zgłaszano również drgawki, nieprawidłowości strukturalne mózgu, a także szereg innych objawów, takich jak nawracające zapalenie ucha środkowego, nadmierna ruchomość stawów, hirsutyzm lub znamiona."},"cs":{"name":"Luscan-Lumish syndrom","synonyms":["SETD2-related overgrowth syndrome"]},"uk":{"name":"Синдром Лускана-Люміша","synonyms":["Синдром надмірного росту, повязаний з SETD2"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported."},"zh":{"name":"Luscan-Lumish syndrome","synonyms":["SETD2-related overgrowth syndrome"]},"tr":{"name":"Luscan-Lumish syndrome","synonyms":["SETD2-related overgrowth syndrome"]}},"xrefs":[{"source":"OMIM","code":"616831","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014791","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4085873","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SETD2","name":"SET domain containing 2, histone lysine methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22495309[PMID]","hgnc":"18420","ensembl":"ENSG00000181555","omim":"612778","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31643139[PMID]_33248444[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"31643139[PMID]_33248444[PMID]"}],"phenotypes":null}