{"orpha":476126,"name":"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476126/","orphanet_url":"https://www.orpha.net/en/disease/detail/476126","names":{"fr":{"name":"Syndrome de micrognathie-infections récurrentes-troubles du comportement-déficience intellectuelle modérée","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare avec déficience intellectuelle caractérisé par un retard global léger du développement, une déficience intellectuelle ou des difficultés d'apprentissage, des troubles du comportement (tel qu'un comportement autistique, hyperactif ou agressif), une dysmorphie craniofaciale variable et des malformations des doigts (brachydactylie, doigts fuselés, articulations interphalangiennes gonflées). Les autres signes cliniques sont très variables et incluent, entre autres, des infections récurrentes et des malformations squelettiques."},"de":{"name":"Mikrognathie-rezidivierende Infekte-Verhaltensstörungen-milde Intelligenzminderung-Syndrom","definition":"Ein seltene neurologische Entwicklungsstörung mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine leichte globale Entwicklungsverzögerung, intellektuelle Beeinträchtigung oder Lernschwierigkeiten, Verhaltensprobleme (wie autistisches, hyperaktives oder aggressives Verhalten), variable dysmorphe kraniofaziale Merkmale und Anomalien der Finger (Brachydaktylie, spitz zulaufende Finger, vorstehende Interphalangealgelenke) gekennzeichnet ist. Weitere Merkmale sind sehr unterschiedlich und umfassen u. a. wiederkehrende Infektionen und Skelettanomalien."},"es":{"name":"Síndrome de micrognatia-infecciones recurrentes-trastornos de conducta-discapacidad intelectual leve","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente asociado a discapacidad intelectual caracterizado por un leve retraso global del desarrollo psicomotor, discapacidad intelectual o dificultades de aprendizaje, trastornos de conducta (como comportamiento autista, hiperactivo o agresivo), características craneofaciales dismórficas variables y anomalías de los dedos (braquidactilia, dedos afilados distalmente, articulaciones interfalángicas prominentes). Otras manifestaciones adicionales muy variables incluyen infecciones recurrentes y anomalías esqueléticas, entre otras."},"it":{"name":"Sindrome micrognazia-infezioni ricorrenti-anomalie del comportamento-lieve disabilità intellettiva","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli associata a disabilità intellettiva, caratterizzata da lieve ritardo dello sviluppo globale, disabilità intellettiva o difficoltà di apprendimento, problemi comportamentali (tratti autistici, iperattività o aggressività), dismorfismi craniofacciali variabili e anomalie delle dita delle mani (brachidattilia, dita affusolate, articolazioni interfalangee prominenti). Altri segni clinici molto variabili sono le infezioni ricorrenti e le anomalie scheletriche."},"nl":{"name":"Micrognathie - recidiverende infecties - gedragsafwijkingen - milde intellectuele achterstand-syndroom","definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom met intellectuele achterstand, gekarakteriseerd door milde algehele ontwikkelingsachterstand, intellectuele beperking of leerproblemen, gedragsproblemen (zoals autistisch, hyperactief of agressief gedrag), variabele dysmorfe craniofaciale kenmerken, en anomalieën van vingers (brachydactylie, spits toelopende vingers, prominente interfalangeale gewrichten). Bijkomende manifestaties zijn zeer variabel, en omvatten onder meer recidiverende infecties en skeletanomalieën."},"pt":{"name":"Síndrome de micrognatia-infeções recorrentes-perturbação comportamental-perturbação do desenvolvimento intelectual ligeira"},"pl":{"name":"Zespół mikrognacji, nawracających infekcji, zaburzeń zachowania i łagodnej niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom zahrnující mikrognatii, rekurentní infekce, poruchy chování a lehkou mentální retardaci"},"uk":{"name":"Синдром мікрогнатії-рецидивуючих інфекцій-поведінкових відхилень-легкої розумової відсталості","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others."},"zh":{"name":"小下颌畸形-反复感染-行为异常-轻度智力障碍综合征","definition":"一种罕见的多发性先天性异常/畸形综合征，伴有智力障碍，其特征是轻度的全面发育迟缓、智力障碍或学习困难、行为问题（如自闭症、多动症或攻击性行为）、多种颅面畸形特征特征和手指异常（短指畸形、细指、突出的指间关节）。其他表现变化很大，包括反复感染和骨骼异常等。"},"tr":{"name":"Mikrognati-tekrarlayan enfeksiyonlar-davranışsal anormallikler-hafif zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"617061","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568801","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":"TRIO","name":"trio Rho guanine nucleotide exchange factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26721934[PMID]","hgnc":"12303","ensembl":"ENSG00000038382","omim":"601893","loci":["5p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26721934[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26721934[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-11","source":"28796471[PMID]_26721934[PMID]_27418539[PMID]_18388777[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010035","label":"Aplasia of the 1st metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001674","label":"Complete atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007970","label":"Congenital ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009659","label":"Partial absence of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200006","label":"Slanting of the palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000706","label":"Unerupted tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011908","label":"Unilateral radial aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}