{"orpha":404473,"name":"Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CTNNB1 syndrome","CTNNB1-NDD","CTNNB1-related neurodevelopmental disorder"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404473/","orphanet_url":"https://www.orpha.net/en/disease/detail/404473","names":{"fr":{"name":"Syndrome de déficience intellectuelle-anomalies de l'oeil-microcéphalie-spasticité périphérique","synonyms":["CTNNB1-NDD","Syndrome CTNNB1","Syndrome du neuro-développement lié à CTNNB1","Syndrome neurodéveloppemental lié à CTNNB1"],"definition":"Syndrome de déficience intellectuelle syndromique rare, d'origine génétique, caractérisé par une déficience intellectuelle, un retard moteur important, de sévères troubles de la parole, une hypotonie du tronc à début précoce avec hypertonie/spasticité distale progressive, une microcéphalie et des troubles du comportement (troubles du spectre de l'autisme, comportement agressif ou auto-agressif, troubles du sommeil). Inconstante, la dysmorphie faciale comprend une pointe nasale large avec de petites ailes du nez, un philtrum long et/ou plat, un vermillon de la lèvre supérieure fin. Un trouble visuel (strabisme, hyperopie, myopie) est fréquemment associé."},"de":{"name":"Intelligenzminderung-Augenanomalien-Mikrozephalie-periphere Spastik-Syndrom","synonyms":["CTNNB1-NDD","CTNNB1-assoziierte neurologische Entwicklungsstörung","NEDSDV","Neurologische Entwicklungsstörung mit spastischer Diplegie und Sehstörungen"]},"es":{"name":"Síndrome de discapacidad intelectual-anomalías oculares-microcefalia-espasticidad periférica","synonyms":["Síndrome CTNNB1","TND-CTNNB1","Trastorno del neurodesarrollo asociado a CTNNB1"],"definition":"Es un trastorno de discapacidad intelectual sindrómica, genético y poco frecuente, caracterizado por discapacidad intelectual, retraso motor significativo, trastorno grave del habla, hipotonía troncal de inicio temprano con hipertonía / espasticidad distal progresiva, microcefalia y anomalías conductuales (rasgos autistas, agresividad o comportamiento autoagresivo, trastornos del sueño). La dismorfia facial variable incluye punta nasal ancha con alas nasales pequeñas, surco nasolabial largo y/o plano y bermellón del labio superior delgado. Por lo general, se asocia discapacidad visual (estrabismo, hipermetropía, miopía)."},"it":{"name":"Sindrome disabilità intellettiva-anomalie oculari-microcefalia-spasticità periferica","synonyms":["Sindrome CTNNB1","CTNNB1-NDD","Disturbo dello sviluppo neurologico correlato a CTNNB1"],"definition":"La sindrome che associa la disabilità intellettiva grave alla diplegia spastica progressiva è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva, significativo ritardo motorio, grave deficit del linguaggio, ipotonia del tronco ad esordio precoce associata ad ipertonia/spasticità distale progressiva, microcefalia ed anomalie del comportamento (tratti autistici, comportamenti aggressivi o autolesionistici, disturbi del sonno). I dismorfismi facciali comprendono il naso con la punta ampia e le ali piccole, il filtro lungo e/o piatto e la porzione mucosa del labbro superiore sottile. Spesso si associa alla compromissione della vista (strabismo, iperopia, miopia)."},"nl":{"name":"Intellectuele achterstand - oogafwijkingen - microcefalie - perifere spasticiteit-syndroom","synonyms":["CTNNB1-NDD","CTNNB1-gerelateerde neurologische ontwikkelingsstoornis","CTNNB1-syndroom"],"definition":"Ernstige intellectuele achterstand - progressieve spastische diplegie-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door intellectuele achterstand, significante motorische achterstand, ernstige spraakstoornis, vroeg aanvangende truncale hypotonie met progressieve distale hypertonie/spasticiteit, microcefalie, en gedragsstoornissen (autistische kenmerken, agressie of auto-agressief gedrag, slaapstoornissen). Variabele faciale dysmorfie omvat brede neuspunt met kleine neusvleugels, lang en/of plat filtrum, en dun vermiljoen van de bovenlip. Visuele beperking (strabisme, hyperopie, myopie) is doorgaans geassocieerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual grave-diplegia espástica progressiva"},"pl":{"name":"Zespół niepełnosprawności intelektualnej-nieprawidłowości okulistycznych-małogłowia-spastyczności obwodowejtycznej","synonyms":["Zespół niepełnosprawności intelektualnej, spastyczności obwodowej i wysiękowej witreoretinopatii"],"definition":"*Zespół ciężkiej niepełnosprawności intelektualnej i postępującej diplegii spastycznej jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się niepełnosprawnością intelektualną, znacznym opóźnieniem ruchowym, ciężkim upośledzeniem mowy, hipotonią tułowia o wczesnym początku z postępującą dystalną hipertonią/spastycznością, małogłowiem i zaburzeniami zachowania (cechy autystyczne, agresja lub autoagresja, zaburzenia snu). Zmienna dysmorfia twarzy obejmuje: szeroki czubek nosa z małymi skrzydełkami nosa, długą i/lub płaską rynienkę podnosową, cienką wargę górną. Często towarzyszą zaburzenia widzenia (zez, nadwzroczność, krótkowzroczność).inf brsup"},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci a progresivní spastickou diplegii","synonyms":["CTNNB1 syndrome","CTNNB1-NDD","CTNNB1-related neurodevelopmental disorder"]},"uk":{"name":"Синдром прогресуючої спастичної диплегії з вираженою інтелектуальною недостатністю","synonyms":["Синдром CTNNB1"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated."},"zh":{"name":"严重智力障碍-进行性痉挛性截瘫综合征","synonyms":["CTNNB1综合征"],"definition":"严重的智力障碍-进行性痉挛性截瘫综合征是一种罕见的遗传综合症性智力障碍疾病，其特征是智力障碍，明显的运动延迟，严重的言语障碍，早期发作的截断性肌张力低下伴进行性远端及障碍低下或痉挛，小头畸形和行为异常（自闭症症状，攻击性或自我攻击行为，睡眠障碍）。多种面部畸形包括鼻尖宽，鼻翼小，人中长和/或扁平，上唇薄。通常合并视觉障碍（斜视，远视，近视）。"},"tr":{"name":"Ağır zihinsel yetersizlik-ilerleyici spastik dipleji sendromu","synonyms":["CTNNB1 sendromu"]}},"xrefs":[{"source":"OMIM","code":"615075","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G80.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24614104[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24668549[PMID]_23033978[PMID]_24614104[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24668549[PMID]_23033978[PMID]_24614104[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-10","source":"25326669[PMID]_24614104[PMID]_23033978[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002144","label":"Tethered cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}