{"orpha":314993,"name":"Cataract-congenital heart disease-neural tube defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314993/","orphanet_url":"https://www.orpha.net/en/disease/detail/314993","names":{"fr":{"name":"Syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural","definition":"Le syndrome de cataracte-cardiomyopathie congénitale-défaut de fermeture du tube neural est un syndrome d'anomalies congénitales multiples caractérisé par des anomalies du tube neural sacral conduisant à une moelle attachée, une communication interatriale et/ou interventriculaire (détectée pendant la petite enfance), une hyperopie symétrique bilatérale, des cataractes apparaissant tôt dans l'enfance et progressant rapidement, un glaucome aphaque bilatéral et une dysmorphie faciale (implantation frontale basse des cheveux, petites oreilles, long philtrum, incisives centrales proéminentes et largement espacées, micrognathie). Une hypotonie, un retard de croissance et de développement, des convulsions et une limitation articulaire sont aussi rapportées."},"de":{"name":"Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-Syndrom","definition":"Ein multiples kongenitales Anomalie-Syndrom, das gekennzeichnet ist durch sakrale Neuralrohrdefekte, die zu einem Tethered Cord führen, atriale und/oder ventrikuläre Septumdefekte des Herzens (die im Säuglingsalter entdeckt werden), beidseitige, symmetrische Hyperopie, schnell fortschreitenden frühkindlichen Katarakt, beidseitiges aphakes Glaukom und abnormale Gesichtsmerkmale (niedrige frontale Haarlinie, kleine Ohren, kurzes Philtrum, prominente, weit auseinander stehende zentrale Schneidezähne und Mikrognathie). Hypotonie, Wachstums- und Entwicklungsverzögerung, Krampfanfälle und Gelenkeinschränkungen werden ebenfalls berichtet."},"es":{"name":"Síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural","definition":"El síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural es un síndrome de anomalías congénitas múltiples caracterizado por defectos del tubo neural en el área sacra resultando en médula anclada, defectos cardíacos septales auriculares y/o ventriculares (que se detectan en la infancia), hipermetropía bilateral simétrica, cataratas rápidamente progresivas en la infancia temprana, glaucoma afáquico bilateral y rasgos faciales anómalos (línea frontal de implantación del cabello baja, orejas pequeñas, surco nasolabial corto, incisivos centrales prominentes y muy espaciados entre sí, y micrognatia). También se ha descrito hipotonía, retraso del crecimiento y del desarrollo, crisis y limitaciones articulares."},"it":{"name":"Sindrome cataratta-cardiopatia congenita-difetto del tubo neurale","definition":"La sindrome cataratta-cardiopatia congenita-difetto del tubo neurale è una sindrome da anomalie congenite multiple, caratterizzata da difetti del tubo neurale sacrale che esitano nel midollo ancorato, difetti interatriali e/o interventricolari (individuati durante l'infanzia), iperopia bilaterale simmetrica, cataratta a progressione rapida con esordio nella prima infanzia, glaucoma afachico bilaterale e dismorfismi facciali (attaccatura dei capelli bassa sulla fronte, orecchie piccole, filtro corto, incisivi centrali prominenti e iperdistanziati e micrognatia). Possono essere presenti anche ipotonia, ritardo della crescita e dello sviluppo, crisi epilettiche e limitazioni dei movimenti articolari."},"nl":{"name":"Cataract - congenitale hartziekte - neuralebuisdefect-syndroom","definition":"Cataract - congenitale hartziekte - neurale buisdefect-syndroom is een syndroom met multipele congenitale anomalieën en wordt gekarakteriseerd door defecten aan de sacrale neurale buis die leiden tot gekluisterd ruggenmerg, atrium- en/of ventrikelseptumdefecten (die worden waargenomen in de zuigelingentijd), bilaterale symmetrische hyperopie (verziendheid), snel progressieve cataracten in de vroege kindertijd, bilateraal afakisch glaucoom, en abnormale gelaatskenmerken (lage voorste haarlijn, kleine oren, kort filtrum, prominente en uit elkaar staande centrale snijtanden, en micrognathie). Hypotonie, groei- en ontwikkelingsachterstand, insulten, en gewrichtsbeperking werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de cataratas-cardiopatia congénita-defeito do tubo neural"},"pl":{"name":"Zespół zaćma-wrodzona wada serca-wada cewy nerwowej"},"cs":{"name":"Syndrom zahrnující kataraktu, vrozené srdeční vady a defekty neurální trubice"},"uk":{"name":"Синдром катаракти-вродженої вади серця-дефекту нервової трубки","definition":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported."},"zh":{"name":"X连锁非进行性小脑共济失调","definition":"白内障-先天性心脏病-神经管缺损综合征是一种多发性先天性异常综合征，其特征是骶神经管缺损导致脊髓栓系、房间隔和/或室间隔心脏缺陷（在婴儿期发现）、双侧对称性远视、快速进行性儿童早期白内障，双侧无晶体青光眼，面部特征异常（前额发际线低，耳小，人中短，中切牙突出且间距大，小颌畸形）。张力减退，生长发育迟缓，癫痫发作，关节受限也有报道。"},"tr":{"name":"Katarakt-Doğumsal kalp hastalığı-nöral tüp defekt sendromu"}},"xrefs":[{"source":"OMIM","code":"608227","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011995","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512052","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11836368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11836368[PMID]"}],"phenotypes":null}