{"orpha":363686,"name":"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363686/","orphanet_url":"https://www.orpha.net/en/disease/detail/363686","names":{"fr":{"name":"Syndrome de déficience intellectuelle sévère-trouble du langage-strabisme-visage grimaçant-doigts longs","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de développement global avec parole et langage très limités ou absents, une déficience intellectuelle sévère, de longs doigts effilés, des anomalies oculaires (généralement un strabisme ou une hypermétropie) et une dysmorphie faciale à type d'expression grimaçante du visage, de nez tubulaire avec une base et une pointe nasales larges, ainsi que d'autres manifestations variables telles qu'un front large, un hypertélorisme, des yeux profondément ancrés dans les orbites, d'étroites fentes palpébrales, de philtrum court et/ou de bouche large."},"de":{"name":"Schwere Intelligenzminderung-eingeschränktes Sprachvermögen-Strabismus-grimassierendes Gesicht-lange Finger-Syndrom","definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die mit einer globalen Entwicklungsverzögerung einhergeht und durch eine stark eingeschränkte oder fehlende Sprech- und Sprachfähigkeit, lange, dünne Finger, Augenanomalien (typischerweise Strabismus oder Hypermetropie) und Gesichtsdysmorphien gekennzeichnet ist, zu denen ein grimassierender Gesichtsausdruck, eine röhrenförmige Nase mit ausgeprägter, breiter Basis und Spitze und andere variable Merkmale wie eine breite Stirn, Hypertelorismus, tiefliegende Augen, enge Lidspalten, ein kurzes Philtrum und/oder eine weite Mundöffnung gehören."},"es":{"name":"Síndrome de discapacidad intelectual grave-lenguaje pobre-estrabismo-cara con muecas-dedos largos","definition":"Es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, caracterizado por retraso global del desarrollo con habla y lenguaje muy limitados o ausentes, discapacidad intelectual grave, dedos largos y delgados, anomalías oculares (típicamente estrabismo o hipermetropía), y dismorfia facial que incluye expresión facial de muecas, nariz en forma tubular con base y punta prominentes y anchas, y otras características variables, tales como frente ancha, hipertelorismo, ojos hundidos, fisuras palpebrales estrechas, surco nasolabial corto y/o boca ancha."},"it":{"name":"Sindrome da disabilità intellettiva grave, deficit del linguaggio, strabismo, smorfie facciali e dita lunghe","definition":"La sindrome che associa la disabilità intellettiva grave, i deficit del linguaggio, lo strabismo, le smorfie facciali e le dita lunghe è una malattia genetica rara da disabilità intellettiva, caratterizzata da ritardo dello sviluppo globale, assenza o gravi deficit del linguaggio, disabilità intellettiva grave, dita delle mani allungate ed esili, anomalie oculari (di solito strabismo o ipermetropia) e dismorfismi facciali, che comprendono l'espressione facciale che configura una smorfia, il naso tubulare con base e punta prominenti e ampie, ed altri dismorfismi variabili, come la fronte ampia, l'ipertelorismo, gli occhi infossati, le rime palpebrali strette, il filtro corto e/o la rima orale ampia."},"nl":{"name":"Ernstige intellectuele achterstand - taalachterstand - strabisme - grimasserend gezicht - lange vingers-syndroom","definition":"Ernstige intellectuele achterstand - taalachterstand - strabisme - grimassend gezicht - lange vingers-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door algehele ontwikkelingsachterstand met zeer beperkte of afwezige spraak en taal, ernstige intellectuele achterstand, lange en slanke vingers, oculaire afwijkingen (doorgaans strabisme of hypermetropie), en faciale dysmorfie met onder meer een grimassende gelaatsuitdrukking, een buisvormige neus met een prominente, brede basis en punt, en andere variabele kenmerken zoals een breed voorhoofd, hypertelorisme, diepliggende ogen, smalle ooglidspleten, kort filtrum en/of brede mond."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual grave-défice de linguagem-estrabismo-face em careta-dedos longos"},"pl":{"name":"Zespół ciężka niepełnosprawność intelektualna-słabe umiejętności językowe-zez-grymas na twarzy-długie palce dłoni"},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, poruchu řeči, strabismus, grimasování a dlouhé prsty ruky"},"uk":{"name":"Синдром глибокої розумової відсталості-бідної мови-косоокості-гримаси на обличчі-довгих пальців","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth."},"zh":{"name":"重度智力障碍-语言贫乏-斜视-鬼脸-长指综合征","definition":"严重智力障碍-语言不良-斜视-鬼脸-长手指畸形综合征是一种罕见的遗传性综合征候性智力障碍疾病，其特征是全面发育迟缓、言语和语言非常有限或缺失、严重智力障碍、手指细长，眼睛异常(典型的斜视或远视)，以及面部变形，包括面部鬼脸表情，管状鼻伴底部和尖端突出，以及其他可变特征，如宽额、眼距过宽、眼睛深陷、睑裂狭窄、短人中和/或宽嘴。"},"tr":{"name":"Ağır zihinsel yetersizlik-zayıf dil-şaşılık-yüz buruşturan-uzun parmak sendromu"}},"xrefs":[{"source":"OMIM","code":"615074","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014034","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750954","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12815","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":"GATAD2B","name":"GATA zinc finger domain containing 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23644463[PMID]","hgnc":"30778","ensembl":"ENSG00000143614","omim":"614998","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23644463[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-02","source":"23033978[PMID]_23644463[PMID]_30482549[PMID]_31205050[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000484","label":"Hyperopic astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","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:0000637","label":"Long palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001566","label":"Widely-spaced maxillary central incisors","frequency":"Occasional (29-5%)","criteria":null}]}}