{"orpha":480898,"name":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480898/","orphanet_url":"https://www.orpha.net/en/disease/detail/480898","names":{"fr":{"name":"Syndrome de retard global de développement-anomalies visuelles-atrophie cérébelleuse progressive-hypotonie axiale","definition":"Maladie neurologique génétique rare, caractérisée par un retard de développement léger à sévère et par des troubles du langage, une hypotonie tronculaire, des anomalies de la vision (y compris une cécité corticale et des potentiels évoqués visuels anormaux), une atrophie cérébrale progressive affectant principalement le cervelet et un corps calleux raccourci ou atrophié. D'autres signes cliniques peuvent inclure une augmentation du tonus musculaire des membres, une posture dystonique, une hyporéflexie, une scoliose, une microcéphalie postnatale et une dysmorphie faciale variable (yeux enfoncés dans les orbites, hyperplasie gingivale, philtrum court et rétrognathie)."},"de":{"name":"Globale Entwicklungsverzögerung-Sehanomalien-progressive zerebelläre Atrophie-trunkale Hypotonie-Syndrom"},"es":{"name":"Síndrome de retraso global del desarrollo-anomalías visuales-atrofia cerebelosa progresiva-hipotonía truncal","definition":"Es un trastorno neurológico genético poco frecuente, caracterizado por retraso del desarrollo de leve a grave y trastornos del habla, hipotonía truncal, alteraciones visuales (que incluyen afectación visual cortical y potenciales evocados visuales alterados), atrofia cerebral progresiva que afecta principalmente al cerebelo y cuerpo calloso acortado o atrófico. Otros hallazgos clínicos pueden incluir hipertonía de las extremidades, postura distónica, hiporreflexia, escoliosis, microcefalia postnatal y dismorfia facial variable (p. ej., ojos hundidos, hiperplasia gingival, filtrum corto y retrognatia)."},"it":{"name":"Sindrome da ritardo dello sviluppo globale, anomalie della vista, atrofia cerebellare progressiva e ipotonia del tronco","definition":"La sindrome che associa ritardo dello sviluppo globale, anomalie della vista, atrofia cerebellare progressiva e ipotonia del tronco è una malattia neurologica rara, di origine genetica, caratterizzata da ritardo dello sviluppo da lieve a grave, deficit del linguaggio, ipotonia del tronco, anomalie della vista (compromissione corticale della vista e anomalie dei potenziali evocati visivi), atrofia cerebrale progressiva che interessa per lo più il cervelletto, e accorciamento o atrofia del corpo calloso. Altri segni clinici sono l'aumento del tono muscolare agli arti, la distonia della postura, l'iporeflessia, la scoliosi, la microcefalia postnatale e i dismorfismi facciali (occhi infossati, iperplasia gengivale, filtro corto e retrognazia)."},"nl":{"name":"Algehele ontwikkelingsachterstand - visuele anomalieën - progressieve cerebellaire atrofie - truncale hypotonie-syndroom","definition":"Algehele ontwikkelingsachterstand - visuele anomalieën - progressieve cerebellaire atrofie- truncale hypotonie-syndroom is een zeldzame, genetische, neurologische stoornis, gekarakteriseerd door milde tot ernstige ontwikkelingsachterstand en spraakstoornis, truncale hypotonie, anomalieën van het zicht (waaronder corticale visuele stoornis en abnormale visueel geëvoceerde potentialen), progressieve hersenatrofie van voornamelijk cerebellum, en verkorting of atrofie van corpus callosum. Andere mogelijke klinische bevindingen zijn onder meer verhoogde spiertonus in ledematen, dystonische lichaamshouding, hyporeflexie, scoliose, postnatale microcefalie en variabele gelaatsdysmorfie (e.g. diepliggende ogen, gingivale hyperplasie, kort filtrum en retrognathie)."},"pt":{"name":"Síndrome de perturbação do desenvolvimento global-anomalias visuais-atrofia cerebelosa progressiva-hipotonia axial"},"pl":{"name":"Zespół całościowego opóźnienia w rozwoju, wad wzroku, postępującego zaniku móżdżku i hipotonii tułowia","definition":"*Zespół całościowego opóźnienia w rozwoju, wad wzroku, postępującego zaniku móżdżku i hipotonii tułowia jest rzadką, genetycznie uwarunkowaną chorobą neurologiczną, która charakteryzuje się łagodnym lub ciężkim opóźnieniem rozwoju i zaburzeniami mowy, hipotonią tułowia, zaburzeniami widzenia (ślepota korowa i nieprawidłowe wzrokowe potencjały wywołane), postępującym zanikiem mózgu, które głównie dotyczy móżdżku, skróceniem lub zanikiem ciała modzelowatego. Ponadto może wystąpić wzmożone napięcie mięśni kończyn, postawa dystoniczna, osłabienie odruchów ścięgnistych, skolioza, postnatalne (pourodzeniowe) małogłowie i zróżnicowana dysmorfia twarzy (np. głęboko osadzone oczy, przerost dziąseł, krótka rynienka podnosowa i cofnięta żuchwa)."},"cs":{"name":"Syndrom zahrnující vývojové opoždění, abnormality zraku, progresivní mozečkovou atrofii a trunkální hypotonii"},"uk":{"name":"Глобальна затримка розвитку - аномалії зору - прогресуюча атрофія мозочка - синдром гіпотонії стовбура головного мозку","definition":"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)."},"zh":{"name":"全面发育迟缓-视觉异常-进行性小脑萎缩-横断性肌张力低下综合征","definition":"全面发育迟缓-视觉异常-进行性小脑萎缩-躯体肌张力低下综合征是一种罕见的遗传性神经系统疾病，其特征是轻度至重度发育迟缓和语言障碍、躯体肌张力低下、视觉异常（包括皮质视觉障碍和视觉诱发电位异常）、主要影响小脑进行性脑萎缩、胼胝体缩短或萎缩。其他临床发现包括四肢肌张力增高、肌张力不全性姿势、反射减弱、脊柱侧凸、产后小头畸形和各种面部畸形(如眼深凹、牙龈增生、短人中和颌后缩)。"},"tr":{"name":"Yaygın gelişme geriliği-görme anomalileri-ilerleyici serebellar atrofi-trunkal hipotoni sendromu"}},"xrefs":[{"source":"OMIM","code":"616875","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018822","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567522","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":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[{"symbol":"EMC1","name":"ER membrane protein complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26942288[PMID]","hgnc":"28957","ensembl":"ENSG00000127463","omim":"616846","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26942288[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26942288[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-07","source":"26942288[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031954","label":"Dystonic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null}]}}