{"orpha":576278,"name":"SATB2-associated syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SAS"],"definition":"A rare multisystem disorder characterized by moderate to severe developmental delay/intellectual disability (DD/ID) with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), craniofacial and oral features. Hypotonia and feeding difficulties are frequent manifestations, especially during the neonatal period and early childhood. Other supportive findings may include abnormal brain imaging, EEG abnormalities, epilepsy and skeletal anomalies with low bone density.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576278/","orphanet_url":"https://www.orpha.net/en/disease/detail/576278","names":{"fr":{"name":"Syndrome associé à SATB2","synonyms":["SAS"],"definition":"Maladie multisystémique rare caractérisée par un retard de développement/une déficience intellectuelle (RD/DI) modérés à sévères, un développement absent ou limité du langage, divers troubles du comportement (trouble du spectre de l'autisme, hyperactivité ou agressivité) et des anomalies craniofaciales et buccales. Une hypotonie et des difficultés à s'alimenter sont fréquentes, en particulier chez les nouveau-nés et les nourrissons. D'autres signes à l'appui du diagnostic peuvent inclure des anomalies à l'imagerie cérébrale et à l'EEG, une épilepsie et des anomalies squelettiques avec une faible densité osseuse."},"de":{"name":"SATB2-assoziiertes Syndrom","synonyms":["SAS"],"definition":"Eine seltene Multisystemstörung, die durch eine mäßige bis schwere Entwicklungsverzögerung/ Intelligenzminderung (DD/ID) mit fehlender oder eingeschränkter Sprachentwicklung, verschiedenen Verhaltensproblemen (einschließlich autistischer Merkmale, Hyperaktivität oder Aggressivität), kraniofazialen und oralen Merkmalen gekennzeichnet ist. Hypotonie und Fütterungsschwierigkeiten sind häufige Manifestationen, insbesondere während der Neugeborenenperiode und der frühen Kindheit. Weitere unterstützende Befunde können abnormale Gehirnbilder, EEG-Anomalien, Epilepsie und Skelettanomalien mit geringer Knochendichte sein."},"es":{"name":"Síndrome asociado a SATB2","synonyms":["SAS"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por un retraso del desarrollo o una discapacidad intelectual de moderados a graves con un desarrollo del habla ausente o limitado, trastornos de conducta (incluyendo rasgo autista, hiperactividad o agresividad) y anomalías craneofaciales como cara alargada, frente alta y prominente, nariz bulbosa con columela baja, bermellón del labio superior delgado, anomalías palatinas (paladar hendido, paladar ojival y úvula bífida) y dentales (incisivos superiores anómalos) y micrognatia. Son frecuentes la hipotonía y las dificultades de alimentación. Otros posibles hallazgos que pueden contribuir al diagnóstico son: anomalías esqueléticas con baja densidad ósea y neuroimagen anómala."},"it":{"name":"Sindrome correlata a SATB2","synonyms":["SAS"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo/disabilità intellettiva moderati-gravi, linguaggio limitato o assente, problemi comportamentali (ad es. tratti autistici, iperattività, aggressività) e anomalie craniofacciali che comprendono il viso allungato, la fronte alta e prominente, il naso globoso con columella pendente verso il basso, l'assottigliamento della porzione mucosa del labbro superiore, le anomalie del palato (palatoschisi, palato ogivale e ugola bifida) e dei denti (incisivi superiori anomali), e la micrognazia. Sono comuni l'ipotonia e le difficoltà di alimentazione. I pazienti possono presentare anche anomalie scheletriche, diminuzione della densità ossea e anomalie cerebrali."},"nl":{"name":"SATB2-geassocieerd syndroom","synonyms":["SAS"],"definition":"Een zeldzame multisystemische aandoening, gekenmerkt door matige tot ernstige ontwikkelingsachterstand/intellectuele achterstand (DD/ID) met afwezige of beperkte spraakontwikkeling, verschillende gedragsproblemen (waaronder autistische kenmerken, hyperactiviteit, of agressiviteit), en craniofaciale en orale kenmerken. Hypotonie en voedingsproblemen zijn vaak voorkomende manifestaties, vooral tijdens de neonatale periode en vroege kindertijd. Mogelijke andere ondersteunende bevindingen zijn onder meer abnormale beeldvorming van de hersenen, EEG-afwijkingen, epilepsie, en skeletanomalieën met lage botdensiteit."},"pt":{"name":"Síndrome SATB2-associada","definition":"Síndrome dismórfica/anomalias congénitas múltiplas genéticas, rara, caracterizada por perturbação moderada a grave no desenvolvimento intelectual com dificuldades na fala que variam desde limitada a ausente, perturbação comportamental (incluindo características clínicas do espectro autista, perturbação de défice de atenção e hiperatividade ou agressividade) e anomalias craniofaciais, como face longa, alta e fronte proeminente, nariz bulboso com columela baixa, vermelhão fino do lábio superior, anomalias palatinas (fenda palatina, palato arqueado alto e úvula bífida) e dentárias (incisivos superiores anormais) e micrognatia. Hipotonia e dificuldades alimentares são frequentes. Outros dados clínicos de suporte podem incluir anomalias esqueléticas com baixa densidade óssea e achados anómalos na imagiologia cerebral."},"pl":{"name":"Zespół związany z SATB2","synonyms":["SAS"]},"cs":{"name":"Syndrom spojený s SATB2","synonyms":["SAS"]},"uk":{"name":"SATB2-асоційований синдром","synonyms":["SAS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging."},"zh":{"name":"SATB2基因相关综合征","synonyms":["SAS"]},"tr":{"name":"SATB2-ilişkili sendrom","synonyms":["SAS"]}},"xrefs":[{"source":"OMIM","code":"612313","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0100147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5243581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083270","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":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[{"orpha":251028,"name":"SATB2-associated syndrome due to a chromosomal rearrangement","type":"Etiological subtype"},{"orpha":576283,"name":"SATB2-associated syndrome due to a pathogenic variant","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SATB2","name":"SATB homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29023086[PMID]_31021519[PMID]","hgnc":"21637","ensembl":"ENSG00000119042","omim":"608148","loci":["2q33.1"],"via":{"orpha":576283,"name":"SATB2-associated syndrome due to a pathogenic variant"}},{"symbol":"SATB2","name":"SATB homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19668335[PMID]_21343628[PMID]","hgnc":"21637","ensembl":"ENSG00000119042","omim":"608148","loci":["2q33.1"],"via":{"orpha":251028,"name":"SATB2-associated syndrome due to a chromosomal rearrangement"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":667.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Worldwide","status":"Validated","source":"29023086[PMID]_ORPHANET"}],"phenotypes":null}