{"orpha":363611,"name":"CTCF-related neurodevelopmental disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363611/","orphanet_url":"https://www.orpha.net/en/disease/detail/363611","names":{"fr":{"name":"Trouble neurologique du développement associé à CTCF","definition":"Trouble neurologique du développement rare d'origine génétique caractérisé par un retard global de développement, une déficience intellectuelle allant de limite à sévère, des difficultés à s'alimenter, des troubles du comportement, des troubles de la vision et une légère dysmorphie faciale. Les autres caractéristiques associées peuvent être : microcéphalie, petite taille, malformations urogénitales ou palatines (par exemple, une fente palatine), malformations cardiaques mineures, infections récurrentes ou perte auditive."},"de":{"name":"CTCF-assoziierte neurologische Entwicklungsstörung","definition":"Eine seltene neurologische Entwicklungsstörung, die durch globale Entwicklungsverzögerung, grenzwertige bis schwere Intelligenzminderung, Fütterungsschwierigkeiten, Verhaltensanomalien, Sehstörungen und leichte Gesichtsdysmorphien gekennzeichnet ist. Weitere Merkmale können Mikrozephalie, Kleinwuchs, urogenitale oder palatinale Anomalien (z. B. Gaumenspalte), leichte Herzfehler, wiederkehrende Infektionen oder Hörverlust sein."},"es":{"name":"Trastorno del neurodesarrollo asociado a CTCF","definition":"Es un trastorno del neurodesarrollo, de origen genético y poco frecuente, caracterizado por un retraso global del desarrollo, discapacidad intelectual de limítrofe a grave, dificultades de la alimentación, trastornos de conducta, problemas visuales y leve dismorfia facial. Otras características adicionales asociadas son: microcefalia, talla baja, anomalías urogenitales o palatinas (como paladar hendido), defectos cardíacos menores, infecciones recurrentes o hipoacusia."},"it":{"name":"Disordine del neurosviluppo correlata a CTCF","definition":"Si tratta di una malattia genetica rara del neurosviluppo, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva borderline-grave, difficoltà di alimentazione, anomalie comportamentali e visive, e dismorfismi facciali sfumati. I pazienti possono presentare anche microcefalia, bassa statura, anomalie urogenitali o del palato (ad es. palatoschisi), cardiopatie lievi, infezioni ricorrenti e sordità."},"nl":{"name":"CTCF-gerelateerde neurologische ontwikkelingsstoonis","definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekarakteriseerd door algehele ontwikkelingsachterstand, marginale tot ernstige intellectuele achterstand, voedingsproblemen, gedragsanomalieën, visuele anomalieën, en milde faciale dysmorfie. Overige kenmerken die kunnen geassocieerd zijn, zijn onder meer microcefalie, kleine gestalte, urogenitale anomalieën, afwijkingen van het verhemelte (e.g. gespleten verhemelte), kleine hartdefecten, recidiverende infecties, of gehoorverlies."},"pt":{"name":"Doença do neurodesenvolvimento CTCF-relacionada"},"pl":{"name":"Zaburzenie nerwoworozwojowe związane z CTCF"},"cs":{"name":"Syndrom zahrnující mentální retardaci, poruchy příjmu potravy, opoždění vývoje a mikrocefalii"},"uk":{"name":"Повязане з CTCF порушення нейророзвитку","definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss."},"zh":{"name":"智力障碍-喂养困难-发育迟缓-小头畸形综合征","definition":"智力障碍-喂养困难-发育迟缓-小头畸形综合征是一种罕见的遗传性综合智力障碍，其特征是临界至严重的智力障碍、全面发育迟缓、喂养困难、小头畸形、身材矮小和轻度面部变形，包括粗眉、长睫毛、门牙突出和/或上唇薄。其他相关特征可能包括伴有或不伴有内斜视的远视、行为异常(例如自闭症行为、睡眠障碍)、泌尿生殖系统异常(例如隐睾症、腹股沟疝)、单掌皱纹、五指斜指畸形和心脏缺陷(例如房间隔缺损、PDA)。"},"tr":{"name":"Zihinsel yetersizlik-beslenme zorlukları-gelişme geriliği-mikrosefali sendromu"}},"xrefs":[{"source":"OMIM","code":"615502","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750955","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":"CTCF","name":"CCCTC-binding factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23746550[PMID]","hgnc":"13723","ensembl":"ENSG00000102974","omim":"604167","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28619046[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28619046[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-08","source":"23746550[PMID]_28619046[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000675","label":"Macrodontia of permanent maxillary central incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025116","label":"Fetal distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009183","label":"Joint contracture of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001741","label":"Phimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040223","label":"Pulmonary hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null}]}}