{"orpha":96145,"name":"Distal deletion 4q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 4q","Monosomy 4qter","Telomeric deletion 4q"],"definition":"A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96145/","orphanet_url":"https://www.orpha.net/en/disease/detail/96145","names":{"fr":{"name":"Syndrome de délétion distale 4q","synonyms":["Délétion 4qter","Délétion télomérique 4q","Monosomie 4qter","Monosomie distale 4q","Monosomie télomérique 4q"],"definition":"Monosomie partielle des autosomes caractérisée par l'association inconstante de malformations cardiaques, d'anomalies craniofaciales, digitales et squelettiques et de troubles du développement : hypotonie, retard de développement, retard de croissance, fente palatine, malformations cardiovasculaires, anomalies des mains et des pieds et traits dysmorphiques caractéristiques (microcéphalie, visage arrondi, petits yeux, pont nasal large, nez retroussé, joues pleines, bouche et menton de petite taille)."},"de":{"name":"Distale Deletion 4q","synonyms":["Deletion 4q, distale","Distale Monosomie 4q","Monosomie 4qter","Telomere Deletion 4q"]},"es":{"name":"Síndrome de deleción terminal 4q","synonyms":["Monosomía 4qter","Monosomía terminal 4q"],"definition":"La monosomía terminal 4q es una monosomía parcial autosómica caracterizada por una combinación variable de hallazgos craneofaciales, del desarrollo, de los dedos, esqueléticos y cardíacos: hipotonía, retraso del desarrollo, deficiencia de crecimiento, labio leporino, malformaciones cardiovasculares, anomalías en las manos y pies y características dismórficas típicas, tales como microcefalia, facies redondeada, ojos pequeños, puente nasal ancho, nariz respingona, mejillas llenas, boca y barbilla pequeñas."},"it":{"name":"Sindrome delezione 4q distale","synonyms":["Monosomia 4q distale","Delezione 4q telomerica","Monosomia 4qter"],"definition":"La monosomia distale 4q è una monosomia autosomica parziale, variabilmente caratterizzata da dismorfismi craniofacciali, anomalie dello sviluppo, delle dita, dello scheletro, e da cardiopatie. I segni clinici comprendono l'ipotonia, il ritardo dello sviluppo e della crescita, la palatoschisi, le malformazioni cardiovascolari, le anomalie delle mani e dei piedi, e i dismorfismi caratteristici (microcefalia, viso arrotondato, occhi piccoli, sella nasale ampia, naso con punta rivolta verso l'alto, guance paffute, bocca e mento piccoli)."},"nl":{"name":"Distale deletie 4q-syndroom","synonyms":["Distale monosomie 4q","Monosomie 4qter","Telomerische deletie 4q"],"definition":"Distale monosomie 4q is een partiële autosomale monosomie die gekarakteriseerd wordt door een variabele combinatie van craniofaciale, ontwikkelings-, digitale, skeletale, en cardiale kenmerken: hypotonie, ontwikkelingsachterstand, groeideficiëntie, gespleten verhemelte, cardiovasculaire malformaties, afwijkingen aan handen en voeten, en typische dysmorfe kenmerken zoals microcefalie, rond gezicht, kleine ogen, brede neusbrug, wipneus, volle wangen, en kleine mond en kin."},"pt":{"name":"Distal deletion 4q","synonyms":["Deleção telomérica 4q","Monossomia 4qter","Monossomia distal 4q"]},"pl":{"name":"Zespół delecji dystalnej 4q","synonyms":["Delecja dystalna 4q","Delecja telomerowa 4q","Monosomia 4qter"],"definition":"*Monosomia dystalna 4q jest częściową monosomią autosomu, która charakteryzuje się zmienną kombinacją objawów dotyczących twarzoczaszki, ogólnego rozwoju, palców, układu kostnego i serca, które obejmują hipotonię, opóźnienie rozwoju, niedobór wzrostu, rozszczep podniebienia, wady rozwojowe układu krążenia, wady rąk i stóp oraz typowe cechy dysmorficzne, takie jak małogłowie, okrągła twarz, małe oczy, szeroki grzbiet nosa, zadarty nos, pełne policzki, małe usta i mały podbródek."},"cs":{"name":"Distální monozomie 4q","synonyms":["Distální delece 4q","Monozomie 4qter","Telomerická delece 4q"]},"uk":{"name":"Дистальна делеція 4q","synonyms":["Дистальна моносомія 4q","Моносомія 4qter","Делеція теломерної ділянки 4q"],"definition":"A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin."},"zh":{"name":"4号染色体长臂远端单体","synonyms":["4号染色体长臂端粒缺失"],"definition":"4号染色体长臂远端单体是一种部分常染色体单体畸形，其特征是颅面畸形、发育异常、指/趾畸形、骨骼和心脏异常的可变组合，具体表现为：肌张力减退、发育迟缓、生长缺陷、腭裂、心血管畸形、手足畸形和典型的畸形特征，如小头畸形、圆脸、小眼睛、宽鼻梁、鼻尖上翘、脸颊丰满、嘴巴和下巴较小。"},"tr":{"name":"Distal monozomi 4q","synonyms":["Monozomi 4qter","Distal delesyon 4q","Telomerik delesyon 4q"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.40","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262029,"name":"Partial deletion of the long arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}