{"orpha":96126,"name":"Distal deletion 7p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 7p","Monosomy 7pter","Telomeric deletion 7p"],"definition":"Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96126/","orphanet_url":"https://www.orpha.net/en/disease/detail/96126","names":{"fr":{"name":"Syndrome de délétion distale 7p","synonyms":["Délétion 7pter","Délétion télomérique 7p","Monosomie 7pter","Monosomie distale 7p","Monosomie télomérique 7p"],"definition":"Monosomie partielle des autosomes caractérisée par un retard de développement et une déficience intellectuelle, des anomalies digitales, des malformations cardiaques et urogénitales congénitales, ainsi que par des traits dysmorphiques caractéristiques, notamment une craniosynostose."},"de":{"name":"Distale Deletion 7p","synonyms":["Deletion 7p, distale","Distale Monosomie 7p","Monosomie 7pter","Telomere Deletion 7p"]},"es":{"name":"Síndrome de deleción terminal 7p","synonyms":["Monosomía 7pter","Monosomía terminal 7p"],"definition":"Es una monosomía autosómica parcial caracterizada por retraso del desarrollo y discapacidad intelectual, anomalías digitales, anomalías urogenitales y cardíacas congénitas, y características craneofaciales específicas que, por lo general, incluyen craneosinostosis."},"it":{"name":"Sindrome delezione 7p distale","synonyms":["Delezione 7p telomerica","Monosomia 7pter","Monosomia 7p distale"],"definition":"La monosomia distale 7p è una monosomia autosomica parziale, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, anomalie delle dita, cardiopatie, anomalie urogenitali congenite e dismorfismi craniofacciali caratteristici, che di solito comprendono la craniosinostosi."},"nl":{"name":"Distale deletie 7p-syndroom","synonyms":["Distale monosomie 7p","Monosomie 7pter","Telomerische deletie 7p"],"definition":"Distale monosomie 7p is een partiële autosomale monosomie die gekarakteriseerd wordt door ontwikkelingsachterstand en intellectuele achterstand, anomalieën van vingers/tenen, congenitale hartdefecten en urogenitale anomalieën, en specifieke craniofaciale kenmerken, doorgaans met inbegrip van craniosynostose."},"pt":{"name":"Deleção distal 7p","synonyms":["Deleção telomérica 7p","Monossomia 7pter","Monossomia distal 7p"]},"pl":{"name":"Zespół delecji dystalnej 7p","synonyms":["Delecja dystalna 7p","Delecja telomerowa 7p","Monosomia 7pter"],"definition":"*Monosomia dystalna 7p jest częściową monosomią autosomu, która charakteryzuje się opóźnieniem rozwoju i niepełnosprawnością intelektualną, wadami palców, wrodzonymi wadami serca i układu moczowo-płciowego oraz specyficznymi cechami twarzoczaszki, często obejmującymi kraniosynostozę (przedwczesne zarośnięcie szwów czaszkowych)."},"cs":{"name":"Distální monozomie 7p","synonyms":["Distální delece 7p","Monozomie 7pter","Telomerická delece 7p"]},"uk":{"name":"Дистальна делеція 7p","synonyms":["Дистальна моносомія 7p","Моносомія 7pter","Делеція теломерної ділянки 7p"],"definition":"Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis."},"zh":{"name":"7号染色体短臂远端单体","synonyms":["7号染色体短臂端粒缺失"],"definition":"7号染色体长臂远端单体是一种部分常染色体单体病，其特征是发育迟缓和智力障碍、指/趾畸形、先天性心脏和泌尿生殖系统异常，以及特殊的颅面特征，通常包括颅缝早闭。"},"tr":{"name":"Distal monozomi 7p","synonyms":["Monozomi 7pter","Distal delesyon 7p","Telomerik delesyon 7p"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.71","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1046253673"},{"source":"MONDO","code":"0019892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261911,"name":"Partial deletion of the short arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}