{"orpha":180176,"name":"Familial juvenile hypertrophy of the breast","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Familial juvenile gigantomastia","Virginal breast hypertrophy"],"definition":"A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-180176/","orphanet_url":"https://www.orpha.net/en/disease/detail/180176","names":{"fr":{"name":"Hypertrophie mammaire juvénile familiale","synonyms":["Gigantomastie juvénile familiale","Hypertrophie mammaire virginale"],"definition":"Malformation mammaire rare caractérisée par une hypertrophie unilatérale ou bilatérale, symétrique ou asymétrique, incontrôlée, rapide et massive du (des) sein(s) chez les jeunes filles prépubères, survenant chez plusieurs membres d'une même famille. D'autres manifestations associées peuvent inclure une hyperémie cutanée, des veines sous-cutanées dilatées, une nécrose cutanée, une cyphose, une lordose et une anonychie. La croissance et le développement sont par ailleurs normaux."},"de":{"name":"Familiäre juvenile Hypertrophie der Brust","synonyms":["Gigantomastie, juvenile, familiäre Form"]},"es":{"name":"Hipertrofia juvenil familiar de la mama","synonyms":["Gigantomastia"],"definition":"Es un trastorno malformativo de la mama poco frecuente caracterizado por agrandamiento masivo de la(s) mama(s) en mujeres peripúberes, rápido, incontrolado, simétrico o asimétrico, uni- o bilateral, que se presenta en varios miembros de una familia. Otras manifestaciones adicionales pueden incluir hiperemia cutánea, venas subcutáneas dilatadas, necrosis cutánea, cifosis, lordosis y anoniquia. El crecimiento y el desarrollo son normales."},"it":{"name":"Ipertrofia mammaria giovanile familiare","synonyms":["Ipertrofia mammaria giovanile","Ipertrofia mammaria virginale"],"definition":"L'ipertrofia mammaria giovanile familiare è una malformazione rara delle mammelle, caratterizzata da un accrescimento marcato, rapido e incontrollato, mono- o bi-laterale, simmetrico o asimmetrico, di una o di entrambe le mammelle nelle femmine, che si manifesta in più membri della stessa famiglia nel periodo peripuberale. Altri segni clinici sono l'iperemia cutanea, la dilatazione delle vene sottocutanee, la necrosi della cute, la cifosi, la lordosi e l'anonichia. Per il resto la crescita e lo sviluppo sono normali."},"nl":{"name":"Familiale juveniele hypertrofie van borst","synonyms":["Familiale juveniele gigantomastie","Virginale borsthypertrofie"],"definition":"Een zeldzame malformatie van borst, gekarakteriseerd door unilaterale of bilaterale, symmetrische of asymmetrische, ongecontroleerde, snelle en massale vergroting van de borst(en) bij peripuberale vrouwen, bij verscheidene leden van een familie. Mogelijke bijkomend geassocieerde manifestaties zijn onder meer hyperemie van huid, verwijde subcutane aders, necrose van huid, kyfose, lordose en anonychie. Groei en ontwikkeling zijn voor het overige normaal."},"pt":{"name":"Gigantomastia"},"pl":{"name":"Rodzinny młodzieńczy przerost piersi","synonyms":["Dziewicza hipertrofia piersi","Rodzinna młodzieńcza gigantomastia"],"definition":"*Rodzinny przerost młodzieńczy piersi jest rzadką wadą rozwojową piersi, która charakteryzuje się jednostronnym lub obustronnym, symetrycznym lub asymetrycznym, niekontrolowanym, szybkim i masywnym powiększeniem piersi u kobiet w okresie wczesnego dojrzewania, występującym u różnych członków rodziny. Dodatkowe objawy towarzyszące mogą obejmować przekrwienie skóry, poszerzenie żył podskórnych, martwicę skóry, kyfozę, lordozę i brak paznokci (anonychię). Poza tym wzrastanie i rozwój przebiegają prawidłowo."},"cs":{"name":"Familiární juvenilní hypertrofie prsu","synonyms":["Familiární juvenilní gigantomastie","Panenská hypertrofie prsu"]},"uk":{"name":"Сімейна ювенільна гіпертрофія молочної залози","synonyms":["Сімейна ювенільна гігантомастія","Гіпертрофія молочної залози у дівчат"],"definition":"A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal."},"zh":{"name":"家族性青少年乳腺肥大","synonyms":["家族性青少年巨乳房"],"definition":"家族性少年乳房肥大是一种罕见的乳房畸形疾病，其主要临床表现为青春期女性单侧或双侧、对称或不对称、不受控制的乳房迅速增大，家族成员均可发生。其他表现可出现皮肤充血、皮下静脉曲张、皮肤坏死、脊柱后凸、脊柱前凸和无甲畸形，生长发育正常。"},"tr":{"name":"Memenin ailesel jüvenil hipertrofisi","synonyms":["Virjinal meme hipertrofisi","Ailesel jüvenil jigantomasti"]}},"xrefs":[{"source":"OMIM","code":"113670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N62","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB22","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749285","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":96344,"name":"Rare gynecologic or obstetric disease"},"parents":[{"orpha":180170,"name":"Excess breast volume or number","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}