{"orpha":502437,"name":"4q25 proximal deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Proximal del(4)(q25)","Proximal monosomy 4q25"],"definition":"A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502437/","orphanet_url":"https://www.orpha.net/en/disease/detail/502437","names":{"fr":{"name":"Syndrome de délétion 4q25 proximale","synonyms":["Del(4)(q25) proximale","Monosomie 4q25 proximale"],"definition":"Délétion partielle du bras long du chromosome 4 caractérisée par des troubles du comportement complexes, un retard de développement et une déficience intellectuelle, une dysmorphie faciale légère, notamment une asymétrie faciale subtile (la plus importante au niveau de la mandibule), un hypotélorisme léger, un large pont nasal, de petites oreilles implantées bas, une bouche étroite, et des déformations légères des mains, à savoir, un raccourcissement bilatéral des cinquièmes métacarpes et des mains."},"de":{"name":"Proximale Deletion 4q25-Syndrom","synonyms":["Del(4)(q25), proximale","Monosomie 4q25, proximale"],"definition":"Ein seltene syndromale Chromosomenanomalie, die durch eine partielle Deletion des langen Arms von Chromosom 4 verursacht wird. Zu den charakteristischen Manifestationen gehören komplexe Verhaltensschwierigkeiten, Entwicklungsverzögerung/ Intelligenzminderung und leichte Fehlbildungen, einschließlich subtiler Gesichtsasymmetrie (am deutlichsten im Unterkiefer), leichter Hypotelorismus, langer Nasenrücken, kleine, tief angesetzte Ohren, schmaler Mund und leichte Fehlbildungen der Hände (beidseitig verkürzte 5. Mittelhandknochen und kleine Hände)."},"es":{"name":"Síndrome de deleción proximal 4q25","synonyms":["Del(4)(q25) proximal","Monosomía proximal 4q25"],"definition":"Es una deleción parcial del brazo largo del cromosoma 4 caracterizada por trastornos de la conducta compleja, retraso psicomotor/discapacidad intelectual y rasgos dismórficos menores, incluyendo una asimetría facial sutil (más prominente en la mandíbula), hipotelorismo leve, puente nasal largo, orejas pequeñas de implantación baja, boca estrecha y deformidades leves en las manos, tales como acortamiento bilateral del quinto metacarpiano y manos cortas."},"it":{"name":"Sindrome da delezione prossimale 4q25","definition":"Si tratta di una delezione parziale del braccio lungo del cromosoma 4, caratterizzata da problemi comportamentali complessi, ritardo dello sviluppo, disabilità intellettiva, dismorfismi facciali sfumati che comprendono la lieve asimmetria del viso (più marcata nella mandibola), l'ipotelorismo lieve, la sella nasale allungata, le orecchie piccole a basso impianto e la bocca stretta, e lievi deformità delle mani (accorciamento bilaterale del quinto metacarpo e mani corte)."},"nl":{"name":"Proximale 4q25-deletiesyndroom","synonyms":["Proximale del(4)(q25)","Proximale monosomie 4q25"],"definition":"Een partiële deletie van de lange arm van chromosoom 4, gekarakteriseerd door complexe gedragsproblemen, ontwikkelingsachterstand/intellectuele achterstand, en milde dysmorfe kenmerken, waaronder subtiele asymmetrie van aangezicht (meest prominent aan onderkaak), mild hypotelorisme, lange neusbrug, kleine en laagstaande oren, smalle mond, en milde misvormingen van hand zoals bilateraal korte 5de metacarpalen en korte handen."},"pt":{"name":"Síndrome de deleção proximal 4q25"},"pl":{"name":"Zespół delecji proksymalnego regionu 4q25","synonyms":["del(4)(q25) proksymalna","Monosomia proksymalna 4q25"]},"cs":{"name":"Syndrom proximální delece 4q25","synonyms":["Proximal del(4)(q25)","Proximal monosomy 4q25","Proximální del(4)(q25)","Proximální monozomie 4q25"]},"uk":{"name":"Синдром проксимальної делеції 4q25","synonyms":["Proximal del(4)(q25)","Проксимальна моносомія 4q25"],"definition":"A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands."},"zh":{"name":"染色体4q25近端缺失综合征","synonyms":["染色体4q2近端缺失"],"definition":"4号染色体长臂部分缺失，其特征是复杂性行为障碍、发育迟缓和智力障碍，以及轻微的畸形特征，包括细微的面部不对称（最突出的是下颌骨）、两器官间距离轻度过近、长鼻梁、低位小耳、条口，以及轻度的手部畸形，如双侧第五掌骨短和手短。"},"tr":{"name":"4q25 proksimal delesyon sendromu","synonyms":["Proksimal del (4) (q25)","Proksimal monozomi 4q25"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680087","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]},{"orpha":262029,"name":"Partial deletion of the long arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27587989[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27587989[PMID]"}],"phenotypes":null}