{"orpha":456298,"name":"1p35.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(p35.2)","Deletion 1p35.2","Monosomy 1p35.2"],"definition":"A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia, and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456298/","orphanet_url":"https://www.orpha.net/en/disease/detail/456298","names":{"fr":{"name":"Syndrome de microdélétion 1p35.2","synonyms":["Del(1)(p35.2)","Délétion 1p35.2","Monosomie 1p35.2"],"definition":"Anomalie chromosomique très rare caractérisée par un retard de croissance intra-utérin et post-natal, une petite taille, un retard de développement, des troubles d'apprentissage, une perte auditive, une hypermétropie et une dysmorphie faciale caractéristique à type de front proéminent, de visage long et de faciès myopathique, de sourcils fins, de petite bouche et de micrognathie."},"de":{"name":"Mikrodeletionssyndrom 1p35.2","synonyms":["Del(1)(p35.2)","Deletion 1p35.2","Monosomie 1p35.2"],"definition":"Eine seltene Chromosomenanomalie, die durch eine intrauterine und postanatale Wachstumsretardierung, Kleinwuchs, Entwicklungsverzögerung, Lernschwierigkeiten, Schwerhörigkeit, Hypermetropie und typische Gesichtsdysmorphien gekennzeichnet ist, darunter eine prominente Stirn, ein langes, myopathisches Gesicht, dünne Augenbrauen, ein kleiner Mund und Mikrognathie."},"es":{"name":"Síndrome de microdeleción 1p35.2","synonyms":["Del(1)(p35.2)","Deleción 1p35.2","Monosomía 1p35.2"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por retraso del crecimiento intrauterino y postnatal, talla baja, retraso del desarrollo, dificultades de aprendizaje, pérdida auditiva, hipermetropía y dismorfia facial reconocible que incluye frente prominente, facies alargada y miopática, cejas finas, boca pequeña y micrognatia ."},"it":{"name":"Sindrome da microdelezione 1p35.2","synonyms":["Del(1)(p35.2)","Delezione 1p35.2","Monosomia 1p35.2"],"definition":"È un'anomalia cromosomica molto rara, caratterizzata da ritardo della crescita pre- e post-natale, bassa statura, ritardo dello sviluppo, difficoltà di apprendimento, sordità, ipermetropia e dismorfismi facciali caratteristici (fronte prominente, viso allungato e facies miopatica, sopracciglia sottili, bocca piccola e micrognazia)."},"nl":{"name":"1p35.2-microdeletiesyndroom","synonyms":["Del(1)(p35.2)","Deletie 1p35.2","Monosomie 1p35.2"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door intra-uteriene en postnatale groeiretardatie, kleine gestalte, ontwikkelingsachterstand, leermoeilijkheden, gehoorverlies, hypermetropie, en een herkenbare faciale dysmorfie met onder meer prominent voorhoofd, lang myopathisch aangezicht, fijne wenkbrauwen, kleine mond en micrognathie."},"pt":{"name":"Síndrome de microdeleção 1p35.2"},"pl":{"name":"Zespół mikrodelecji 1p35.2","synonyms":["Del(1)(p35.2)","Delecja 1p35.2","Monosomia 1p35.2"],"definition":"Rzadka aberracja chromosomowa charakteryzująca się opóźnieniem wzrostu wewnątrzmacicznego i postnatalnego, niskim wzrostem, opóźnieniem rozwoju, trudnościami w nauce, niedosłuchem, nadwzrocznością i charakterystyczną dysmorfią twarzy, obejmującą wydatne czoło, długą, miopatyczną twarz, cienkie brwi, małe usta i mikrognację."},"cs":{"name":"Mikrodeleční syndrom 1p35.2","synonyms":["Del(1)(p35.2)","Delece 1p35.2","Monozomie 1p35.2"]},"uk":{"name":"Синдром мікроделеції 1p35.2","synonyms":["Del(1)(p35.2)","Делеція 1p35.2","Моносомія 1p35.2"],"definition":"A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia."},"zh":{"name":"1p35.2微缺失综合征","synonyms":["1p35.2单体"],"definition":"一种非常罕见的染色体异常，其特征是宫内和产后生长迟缓、身材矮小、发育迟缓、学习困难、听觉丧失、远视眼，以及明显的面部畸形，包括前额突出、长的肌病性面容、细眉毛、小嘴和小颌畸形。"},"tr":{"name":"1p35.2 mikrodelesyon sendromu","synonyms":["Del(1)(p35.2)","Delesyon 1p35.2","Monozomi1p35.2"]}},"xrefs":[{"source":"OMIM","code":"617930","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018697","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679992","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":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","classifications":[147,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25900906[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25900906[PMID]"}],"phenotypes":null}