{"orpha":500545,"name":"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500545/","orphanet_url":"https://www.orpha.net/en/disease/detail/500545","names":{"fr":{"name":"Trouble neurologique du développement sévère avec troubles de l'alimentation-mouvements stéréotypés des mains-cataracte bilatérale","definition":"Trouble envahissant du développement rare caractérisé par une microcéphalie, un retard du développement sévère, une déficience intellectuelle, une cataracte bilatérale, une épilepsie sévère incluant des spasmes infantiles, une hypotonie, une irritabilité, des difficultés à s'alimenter, entraînant un retard de croissance et des mouvements stéréotypés des mains. La maladie apparaît dans la petite enfance. L'IRM cérébrale met en évidence un retard de myélinisation et une atrophie cérébrale."},"de":{"name":"Schwere neurologische Entwicklungsstörung mit Fütterproblemen-stereotype Handbewegungen-bilateraler Katarakt","definition":"Eine seltene tiefgreifende Entwicklungsstörung, die durch Mikrozephalie, ausgeprägte Entwicklungsverzögerung, Intelligenzminderung, beidseitigen Katarakt, schwere Epilepsie einschließlich infantiler Spasmen, Hypotonie, Reizbarkeit, Fütterungsschwierigkeiten, die zu Gedeihstörungen führen, und stereotype Handbewegungen gekennzeichnet ist. Die Krankheit manifestiert sich bereits im Säuglingsalter. Die Bildgebung des Gehirns zeigt eine verzögerte Myelinisierung und zerebrale Atrophie."},"es":{"name":"Trastorno grave del neurodesarrollo con dificultades para alimentarse-movimientos estereotipados de las manos-cataratas bilaterales","definition":"Es un trastorno poco frecuente y generalizado del desarrollo caracterizado por microcefalia, profundo retraso psicomotor, discapacidad intelectual, catarata bilateral, graves crisis epilépticas que incluyen espasmos infantiles, hipotonía, irritabilidad, dificultades en la alimentación que provocan fallo de medro y movimientos estereotipados de las manos. La enfermedad se manifiesta en la lactancia. La neuroimagen revela un retraso en la mielinización y atrofia cerebral."},"it":{"name":"Grave alterazione dello sviluppo neurologico con difficoltà di alimentazione-movimenti stereotipati delle mani-cataratta bilaterale","definition":"Si tratta di una malattia rara e pervasiva dello sviluppo, caratterizzata da microcefalia, grave ritardo dello sviluppo, disabilità intellettiva, cataratta bilaterale, epilessia grave con spasmi infantili, ipotonia, irritabilità, difficoltà di alimentazione che esitano nel ritardo della crescita, e movimenti stereotipati delle mani. La malattia esordisce nella prima infanzia. Le neuroimmagini mostrano un ritardo della mielinizzazione e atrofia cerebrale."},"nl":{"name":"Ernstige neurologische ontwikkelingsstoornissen met voedingsproblemen - stereotiepe handbewegingen - bilateraal cataract","definition":"Een zeldzame pervasieve ontwikkelingsstoornis, gekarakteriseerd door microcefalie, zeer ernstige ontwikkelingsachterstand, intellectuele achterstand, bilateraal cataract, ernstige epilepsie met onder meer infantiele spasmen, hypotonie, prikkelbaarheid, voedingsproblemen die leiden tot groeifalen, en stereotiepe handbewegingen. De ziekte manifesteert zich in de zuigelingentijd. Beeldvorming van hersenen toont vertraagde myelinisatie en cerebrale atrofie."},"pt":{"name":"Perturbação do neurodesenvolvimento grave com dificuldades de alimentação-movimento estereotipado da mão-catarata bilateral"},"pl":{"name":"Ciężkie zaburzenie neurorozwojowe z trudnościami w odżywianiu, stereotypiami dłoni oraz obustronną zaćmą"},"cs":{"name":"Závažná neurovývojová porucha s obtížným krmením, stereotypickými pohyby rukou a bilaterální kataraktou"},"uk":{"name":"Тяжкі порушення нейророзвитку з труднощами при годуванні - стереотипні рухи рук - двостороння катаракта","definition":"A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy."},"zh":{"name":"严重的神经发育障碍伴有喂养困难-手部刻板运动-双侧白内障","definition":"一种罕见的普遍性发育障碍，其特点是小脑萎缩、深度发育迟缓、智力障碍、双侧白内障、严重的癫痫，包括婴儿痉挛、肌张力低下、易激惹、喂养困难导致发育不良、手部动作刻板。本病在婴儿期就有表现。脑影像学检查显示髓鞘形成迟缓和大脑萎缩。"},"tr":{"name":"Beslenme güçlüğü-stereotipik el hareketi-bilateral katarakt ile seyreden ağır nörogelişimsel bozukluk"}},"xrefs":[{"source":"OMIM","code":"617393","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568106","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"NACC1","name":"nucleus accumbens associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28132692[PMID]","hgnc":"20967","ensembl":"ENSG00000160877","omim":"610672","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"28132692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28132692[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-20","source":"28132692[PMID]","terms":[{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}