{"orpha":1597,"name":"Distal deletion 17q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 17q","Monosomy 17qter","Telomeric deletion 17q"],"definition":"A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1597/","orphanet_url":"https://www.orpha.net/en/disease/detail/1597","names":{"fr":{"name":"Syndrome de délétion distale 17q","synonyms":["Délétion 17qter","Délétion télomérique 17q","Monosomie 17qter","Monosomie distale 17q"],"definition":"Délétion partielle du bras long du chromosome 17 caractérisée par une hypotonie, un retard de croissance, un retard de développement global sévère, une microcéphalie, des crises d'épilepsie, des anomalies cardiaques congénitales, des malformations des mains et des pieds (syndactylie, symphalangisme) et une dysmorphie faciale (visage rond, hypertélorisme, fentes palpébrales palpébrales orientées vers le haut et micrognathie). Les délétions rapportées concernent les régions 17q21-q24."},"de":{"name":"Distale Deletion 17q","synonyms":["Distale Monosomie 17q","Monosomie 17qter","Telomere Deletion 17q"],"definition":"Eine partielle Deletion des langen Arms von Chromosom 17. Die betroffenen Personen präsentieren sich mit Hypotonie, Wachstumsverzögerung, schwere globale Entwicklungsverzögerung, Mikrozephalie, Krampfanfälle, angeborene Herzanomalien, Hand- und Fußanomalien (Syndaktylie, Symphalangismus) und Gesichtsdysmorphien, einschließlich rundem Gesicht, Hypertelorismus, aufsteigenden Lidachsen und Mikrognathie. Die berichteten Deletionen betreffen die Regionen 17q21-q24."},"es":{"name":"Síndrome de deleción terminal 17q","synonyms":["Monosomía 17qter","Monosomía terminal 17q"],"definition":"Es una deleción parcial del brazo largo del cromosoma 17 caracterizada por hipotonía, retraso del crecimiento, grave retraso global del desarrollo, microcefalia, convulsiones, anomalías cardiacas congénitas, anomalías en manos y pies (sindactilia, sinfalangismo) y rasgos faciales dismórficos, incluyendo cara redondeada, hipertelorismo, fisuras palpebrales inclinadas hacia arriba y micrognatia. Las deleciones descritas afectan a las regiones 17q21-q24."},"it":{"name":"Sindrome delezione 17q distale","synonyms":["Delezione 17q telomerica","Monosomia 17qter","Monosomia distale 17q"],"definition":"È una delezione parziale del braccio lungo del cromosoma 17, caratterizzata da ipotonia, ritardo della crescita, grave ritardo dello sviluppo globale, microcefalia, crisi epilettiche, cardiopatie congenite, anomalie delle mani e dei piedi (sindattilia, sinfalangismo) e dismorfismi facciali, compreso il viso arrotondato, l'ipertelorismo, le rime palpebrali oblique verso l'alto e la micrognazia. Le delezioni osservate interessano le regioni 17q21-q24."},"nl":{"name":"Distale deletie 17q-syndroom","synonyms":["Distale monosomie 17q","Monosomie 17qter","Telomerische deletie 17q"],"definition":"Een partiële deletie van de lange arm van chromosoom 17 die gekarakteriseerd wordt door hypotonie, groeiachterstand, ernstige algehele ontwikkelingsachterstand, microcefalie, insulten, congenitale hartanomalieën, hand- en voetanomalieën (syndactylie, symfalangisme) en dysmorfe gelaatskenmerken, waaronder rond gelaat, hypertelorisme, opwaarts hellende ooglidspleten, en micrognathie. Gerapporteerde deleties omvatten de regio's 17q21-q24."},"pt":{"name":"Deleção distal 17q","synonyms":["Deleção telomérica 17q","Monossomia 17qter","Monossomia distal 17q"]},"pl":{"name":"Zespół delecji dystalnej 17q","synonyms":["Dystalna delecja 17q","Monosomia 17qter","Telomerowa delecja 17q"]},"cs":{"name":"Distální monozomie 17q","synonyms":["Distální 17q delece","Monozomie 17qter","Telomerická delece 17q"]},"uk":{"name":"Дистальна делеція 17q","synonyms":["Дистальна моносомія 17q","Моносомія 17qter","Делеція теломерної ділянки 17q"],"definition":"A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24."},"zh":{"name":"17号染色体长臂远端单体","synonyms":["17号染色体长臂末端着丝粒缺失"]},"tr":{"name":"Distal monozomi 17q","synonyms":["Monozomi 17qter","Distal 17q delesyonu","Telomerik delesyon 17q"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"19213480"},{"source":"MONDO","code":"0015562","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275171","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010293","label":"Aplasia/Hypoplasia of the uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null}]}}