{"orpha":96150,"name":"Distal deletion 14q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 14q","Telomeric deletion 14q"],"definition":"Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96150/","orphanet_url":"https://www.orpha.net/en/disease/detail/96150","names":{"fr":{"name":"Syndrome de délétion distale 14q","synonyms":["Délétion 14qter","Délétion télomérique 14q","Monosomie 14qter","Monosomie distale 14q","Monosomie télomérique 14q"],"definition":"Anomalie chromosomique rare associée à diverses caractéristiques phénotypiques en fonction de la taille de la délétion. Les caractéristiques cliniques peuvent inclure un retard global de développement, une hypotonie, des malformations cardiaques congénitales, une dysmorphie (front haut, petites fentes palpébrales, épicanthus, blépharophimosis, pont nasal large et plat, philtrum large, lèvre supérieure fine, palais ogival, menton pointu, oreilles malformées). Des cris aigus de faible intensité, des crises convulsives et diverses anomalies dentaires et ophtalmologiques ont également été rapportés."},"de":{"name":"Distale Deletion 14q","synonyms":["Deletion 14q, distale","Distale Monosomie 14q","Telomere Deletion 14q"]},"es":{"name":"Síndrome de deleción terminal 14q","synonyms":["Monosomía terminal 14q"],"definition":"Es una anomalía cromosómica poco frecuente asociada a diversas características fenotípicas dependiendo del tamaño de la deleción. Los hallazgos clínicos pueden incluir retraso global del desarrollo, hipotonía, defectos cardíacos congénitos, características dismórficas (frente alta, fisuras palpebrales pequeñas, epicanto, blefarofimosis, puente nasal ancho y plano, surco nasolabial ancho, labio superior delgado, paladar ojival, barbilla puntiaguda, orejas malformadas). También se ha descrito llanto débil y agudo, convulsiones y diversas anomalías dentales y oftalmológicas."},"it":{"name":"Sindrome delezione 14q distale","synonyms":["Monosomia 14q distale","Delezione 14q telomerica"],"definition":"La monosomia 14q distale è un'anomalia cromosomica rara caratterizzata da un quadro clinico variabile, che dipende dall'ampiezza della delezione, e comprende il ritardo dello sviluppo globale, l'ipotonia, le cardiopatie congenite e i dismorfismi (fronte alta, rime palpebrali piccole, epicanto, blefarofimosi, sella nasale ampia e piatta, filtro largo, labbro superiore sottile, palato ogivale, mento appuntito, orecchie malformate). Possono associarsi il pianto acuto e debole, le crisi epilettiche e diverse anomalie dei denti e degli occhi."},"nl":{"name":"Distale deletie 14q-syndroom","synonyms":["Distale monosomie 14q","Telomerische deletie 14q"],"definition":"Distale monosomie 14q is een zeldzame chromosomale anomalie geassocieerd met verscheidene fenotypische kenmerken, afhankelijk van de omvang van de deletie. Mogelijke klinische kenmerken zijn onder meer algehele ontwikkelingsachterstand, hypotonie, congenitale hartdefecten, en dysmorfe kenmerken (hoog voorhoofd, kleine ooglidspleten, amandelogen, blefarofimose, brede en platte neusbrug, breed filtrum, dunne bovenlip, hoog gebogen verhemelte, puntige kin, misvormde oren). Hoog en zwak gehuil, insulten en verscheidene dentale en oftalmologische anomalieën werden ook reeds gerapporteerd."},"pt":{"name":"Deleção distal 14q","synonyms":["Deleção telomérica 14q","Monossomia 14qter","Monossomia distal 14q"]},"pl":{"name":"Zespół delecji dystalnej 14q","synonyms":["Delecja dystalna 14q","Delecja telomerowa 14q"],"definition":"*Monosomia dystalna 14q jest rzadką aberracją chromosomową, związaną z różnymi cechami fenotypowymi w zależności od wielkości delecji. Cechy kliniczne mogą obejmować całościowe opóźnienie rozwoju, hipotonię, wrodzone wady serca, cechy dysmorficzne (wysokie czoło, małe szpary powiekowe, zmarszczki nakątne, małe i krótkie szpary powiekowe, szeroki i płaski grzbiet nosa, szeroka rynienka wargowa, cienka górna warga, wysokie podniebienie, spiczasty podbródek, zniekształcone uszy). Opisywano również cichy płacz o wysokim tonie, drgawki oraz różne wady zębów i oczu."},"cs":{"name":"Distální monozomie 14q","synonyms":["Distální delece 14q","Telomerická delece 14q"]},"uk":{"name":"Дистальна делеція 14q","synonyms":["Дистальна моносомія 14q","Делеція теломерної ділянки 14q"],"definition":"Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported."},"zh":{"name":"14号染色体长臂远端单体","synonyms":["14号染色体长臂端粒缺失"],"definition":"14号染色体长臂远端单体是一种罕见的染色体异常，表型特征多变，取决于缺失的大小。临床特征包括发育迟缓、肌张力减退、先天性心脏病、畸形特征（额头高、眼睑裂小、内眦赘皮、睑裂狭小、鼻梁宽而扁平、人中宽、上唇薄、高腭弓、下巴尖、耳畸形）。高音调、微弱的哭声，癫痫发作，各种牙科和言语异常也有报道。"},"tr":{"name":"Distal monozomi 14q","synonyms":["Distal delesyon 14q","Telomerik delesyon 14q"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019898","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}