{"orpha":502434,"name":"STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502434/","orphanet_url":"https://www.orpha.net/en/disease/detail/502434","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie faciale-reflux gastro-oesophagien associé à STAG1","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement global, une déficience intellectuelle de sévérité variable et une dysmorphie faciale (notamment un long pont nasal, des yeux profondément situés dans les orbites et une large bouche), souvent associés à des difficultés d'alimentation et/ou à un reflux gastro-oesophagien. Les autres signes cliniques rapportés sont les crises convulsives, l'hypotonie, des manifestations caractéristiques de l'autisme et une laxité articulaire. L'imagerie cérébrale fait apparaître des caractéristiques non spécifiques telles qu'une atrophie cérébrale."},"de":{"name":"Intelligenzminderung-Gesichtsdysmorphie-gastroösophagealer Reflux-Syndrom, STAG1-assoziiert","definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine globale Entwicklungsverzögerung, unterschiedliche Grade intellektueller Beeinträchtigung und Gesichtsdysmorphien (u. a. hoher Nasenrücken, tief liegende Augen und breiter Mund) gekennzeichnet ist und häufig mit Fütterungsproblemen und/oder gastroösophagealem Reflux einhergeht. Als weitere Symptome werden Krampfanfälle, Hypotonie, autistische Züge und Gelenklaxität berichtet. Die Bildgebung des Gehirns kann unspezifische Merkmale (wie z. B. zerebrale Atrophie) zeigen."},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-reflujo gastroesofágico asociado a STAG1","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por un retraso global del desarrollo, grados variables de discapacidad intelectual y dismorfia facial (incluyendo puente nasal alto, ojos hundidos y boca amplia), a menudo acompañado de dificultades de alimentación y/o reflujo gastroesofágico. Otras manifestaciones adicionales descritas son crisis, hipotonía, rasgos autistas y laxitud articular. La neuroimagen puede mostrar características inespecíficas (como atrofia cerebral)."},"it":{"name":"Sindrome disabilità intellettiva - dismorfismi facciali - reflusso gastroesofageo correlata a STAG1","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva di gravità variabile e dismorfismi facciali (sella nasale prominente, occhi infossati e bocca larga), spesso associati a difficoltà di alimentazione e/o reflusso gastroesofageo. I pazienti possono presentare anche crisi epilettiche, ipotonia, tratti autistici e lassità articolare. Le neuroimmagini mostrano anomalie aspecifiche (ad. es. atrofia cerebrale)."},"nl":{"name":"STAG1-gerelateerde intellectuele achterstand - faciale dysmorfie - gastro-oesofageale reflux-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, variabele gradaties van intellectuele achterstand, en faciale dysmorfie (met onder meer hoge neusbrug, diepliggende ogen, en brede mond), vaak geassocieerd met voedingsproblemen en/of gastro-oesofageale reflux. Bijkomende manifestaties die werden gerapporteerd, zijn insulten, hypotonie, autistische kenmerken, en gewrichtslaxiteit. Beeldvorming van hersenen toont mogelijk aspecifieke kenmerken (zoals cerebrale atrofie)."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-refluxo gastroesofágico STAG1-relacionado"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, dysmorfii twarzy i refluksu żołądkowo-przełykowego związany z STAG1"},"cs":{"name":"STAG1-vázaný syndrom zahrnující mentální retardaci, faciální dysmorfismus a gastroezofageální reflux"},"uk":{"name":"STAG1-повязаний синдром інтелектуальної недостатності-дисморфізму обличчя-гастроезофагеального рефлюксу","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy)."},"zh":{"name":"STAG1基因相关智力障碍-面部畸形-胃食管反流综合征"},"tr":{"name":"STAG1-ilişkili zihinsel yetersizlik-fasiyal dismorfizm-gastroözofageal reflü sendromu"}},"xrefs":[{"source":"OMIM","code":"617635","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568769","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]}],"children":[],"genes":[{"symbol":"STAG1","name":"STAG1 cohesin complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28119487[PMID]","hgnc":"11354","ensembl":"ENSG00000118007","omim":"604358","loci":["3q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"28119487[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28119487[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-20","source":"28119487[PMID]_30158690[PMID]","terms":[{"hpo":"HP:0000490","label":"Deeply set eye","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:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000050","label":"Hypoplastic male external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001566","label":"Widely-spaced maxillary central incisors","frequency":"Occasional (29-5%)","criteria":null}]}}