{"orpha":569821,"name":"Congenital primary lymphedema of Gordon","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["VEGFC-related congenital primary lymphedema"],"definition":"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569821/","orphanet_url":"https://www.orpha.net/en/disease/detail/569821","names":{"fr":{"name":"Lymphoedème primaire congénital de Gordon","synonyms":["Lymphoedème primaire congénital associé à VEGFC"],"definition":"Lymphoedème primaire rare caractérisé par un oedème bilatéral et indolore des membres inférieurs, présent dès la naissance. Des veines saillantes au niveau des chevilles ainsi que sur le dos du pied, des ongles de pieds dysplasiques et courbés vers le haut en raison d'un oedème affectant le lit de l'ongle et une légère dysmorphie faciale (front haut, hypertélorisme, pont nasal déprimé, légère dysplasie bilatérale des oreilles et nuque courte) ont également été décrits. L'atteinte lymphatique est plus légère que celle observée dans la maladie de Milroy, dont les signes cliniques sont similaires, puisque le lymphoedème est légèrement moins sévère et que la captation des traceurs à la lymphoscintigraphie est bien plus élevée."},"de":{"name":"Kongenitales primäres Lymphödem vom Typ Gordon","synonyms":["VEGFC-assoziiertes kongenitales primäres Lymphödem"],"definition":"Ein seltenes primäres Lymphödem, das durch beidseitige, schmerzlose Schwellungen der unteren Gliedmaßen gekennzeichnet ist, die bereits bei der Geburt auftreten. Prominente Venen um die Knöchel und an der Fußrückenhaut, dysplastische und schräg stehende Zehennägel aufgrund eines Nagelbettödems sowie subtile Gesichtsdysmorphien (wie hohe Stirn, Hypertelorismus, vertiefter Nasenrücken, leichte bilaterale Ohrendysplasie und kurzer Hals) wurden ebenfalls beschrieben. Der Grad der lymphatischen Beeinträchtigung ist milder als bei der ansonsten klinisch ähnlichen Milroy-Krankheit, was durch ein etwas weniger schweres Lymphödem und eine deutlich höhere Aufnahme von Tracern in der Lymphszintigraphie belegt wird."},"es":{"name":"Linfedema primario congénito de Gordon","synonyms":["Linfedema primario congénito asociado a VEGFC","Linfedema primario congénito asociado al gen VEGFC"],"definition":"Es un linfedema primario poco frecuente caracterizado por una inflamación bilateral e indolora de las extremidades inferiores presente al nacimiento. También se ha descrito venas prominentes alrededor de los tobillos y en la planta de los pies, uñas de los pies displásicas y ascendentes debido al edema del lecho ungueal y leves rasgos faciales dismórficos (como frente ancha, hipertelorismo, puente nasal deprimido, leve displasia bilateral del oído y cuello corto). El grado de afectación linfática es menor que en la enfermedad de Milroy, clínicamente similar, mostrando un linfedema ligeramente menos grave y una captación significativamente mayor de trazador en la linfogammagrafía."},"it":{"name":"Linfedema primitivo congenito di Gordon","synonyms":["Linfedema primitivo congenito correlato a VEGFC"],"definition":"Si tratta di un linfedema primitivo raro, caratterizzato da gonfiore congenito bilaterale e indolore degli arti inferiori. I pazienti possono presentare anche vene prominenti attorno alle caviglie e sul dorso dei piedi, unghie dei piedi displastiche e oblique verso l'alto a causa dell'edema del letto ungueale, e dismorfismi facciali sfumati (fronte alta, ipertelorismo, sella nasale infossata, lieve displasia bilaterale dell'orecchio e collo corto). Il grado di compromissione linfatica è più lieve rispetto alla malattia di Milroy, che è simile dal punto di vista clinico, ma con un linfedema leggermente meno grave e un assorbimento significativamente maggiore dei traccianti nella linfoscintigrafia."},"nl":{"name":"Congenitaal primair lymfoedeem van Gordon","synonyms":["VEGFC-gerelateerd congenitaal primair lymfoedeem"],"definition":"Een zeldzaam primair lymfoedeem, gekarakteriseerd door bilaterale, pijnloze zwelling van onderste ledematen die aanwezig is bij de geboorte. Prominente aders rond de enkels en op de dorsale zijde van de voeten, dysplastische en opwaarts hellende teennagels als gevolg van oedeem van het nagelbed, en subtiele dysmorfe gelaatskenmerken (zoals hoog voorhoofd, hypertelorisme, ingezakte neusbrug, milde bilaterale dysplasie van de oren, en korte hals) werden ook reeds beschreven. De mate van aantasting van lymfevaten is milder dan bij de voor het overige klinisch gelijkaardige ziekte van Milroy, zoals blijkt uit iets minder ernstig lymfoedeem en significant meer opname van tracers bij lymfoscintigrafie."},"pt":{"name":"Linfedema de Gordon primário congénito"},"pl":{"name":"Wrodzony pierwotny obrzęk limfatyczny Gordona","synonyms":["VEGFC-related congenital primary lymphedema"]},"cs":{"name":"Vrozený primární lymfedém Gordonové","synonyms":["VEGFC-related congenital primary lymphedema"]},"uk":{"name":"Вроджена первинна лімфедема Гордона","synonyms":["Вроджена первинна лімфедема, повязана з VEGFC"],"definition":"A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy."},"zh":{"name":"戈登型先天性原发性淋巴水肿","synonyms":["VEGFC基因相关先天性原发性淋巴水肿"]},"tr":{"name":"Gordon'un Doğumsal primer lenfödemi","synonyms":["VEGFC-ilişkili doğumsal primer lenfödem"]}},"xrefs":[{"source":"OMIM","code":"615907","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035500","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2416,"name":"Congenital primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[{"symbol":"VEGFC","name":"vascular endothelial growth factor C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30071673[PMID]","hgnc":"12682","ensembl":"ENSG00000150630","omim":"601528","loci":["4q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"30071673[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30071673[PMID]"}],"phenotypes":null}