{"orpha":238744,"name":"Mammary-digital-nail syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MDN syndrome","Onycho-digito-mammary syndrome"],"definition":"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238744/","orphanet_url":"https://www.orpha.net/en/disease/detail/238744","names":{"fr":{"name":"Syndrome onycho-digito-mammaire","synonyms":["Syndrome MDN"],"definition":"Syndrome avec anomalies des membres caractérisé par une onychodystrophie/anonychie congénitale, une brachydactylie du cinquième doigt, une digitalisation des pouces, avec absence ou hypoplasie des phalanges distales des mains et des pieds, associée à une hypertrophie juvénile des seins avec gigantomastie chez les femmes en période péripubertaire."},"de":{"name":"Mammary-digital-nail-Syndrom","synonyms":["MDN-Syndrom","Mamma-Finger-Nagel-Syndrom","Onycho-digito-mammary-Syndrom"],"definition":"Das Mamma-Finger-Nagel-Syndrom ist eine syndromale Gliedmaßenfehlbildung und gekennzeichnet durch kongenitale Onychodystrophie/Anonychie, Brachydaktylie des 5. Fingers, Digitalisierung des Daumens, fehlende oder hypoplastische distale Phalangen der Hände und Füße, zusammen mit juveniler Hypertrophie der Brust und Gigantomastie bei peripubertären Mädchen."},"es":{"name":"Síndrome mamario-dígito-ónico","synonyms":["Síndrome MDN","Síndrome ónico-dígito-mamario"],"definition":"El síndrome ónico-dígito-mamario es un síndrome de malformación de las extremidades que se caracteriza por onicodistrofia/anoniquia, braquidactilia del quinto dedo, digitalización de los pulgares, con ausencia o hipoplasia de las falanges distales de las manos y pies en asociación con hipertrofia juvenil de los pechos con gigantomastia en mujeres peripuberales."},"it":{"name":"Sindrome mammella-dita-unghie","synonyms":["Sindrome MDN","Sindrome onico-digito-mammaria"],"definition":"La sindrome mammella-dita-unghie è una malformazione sindromica degli arti, caratterizzata da onicodistrofia/anonichia congenita, brachidattilia delle quinte dita, digitalizzazione dei pollici, assenza o ipoplasia delle falangi distali delle mani e dei piedi, associati ad ipertrofia giovanile del seno, con gigantomastia nelle femmine in età prepuberale."},"nl":{"name":"Borst-vinger-nagel-syndroom","synonyms":["MDN-syndroom","Onychodigitomammair syndroom"],"definition":"Een syndromale malformatie van ledematen, gekenmerkt door congenitale onychodystrofie/anonychie, brachydactylie van vijfde vinger, vervanging van de duimen door vingers, met afwezigheid of hypoplasie van distale falangen van handen en voeten, geassocieerd met juveniele hypertrofie van borst met gigantomastie bij peripuberale vrouwen."},"pt":{"name":"Síndrome mamário-digital-ungueal"},"pl":{"name":"Zespół sutkowo-palcowo-paznokciowy","synonyms":["Zespół MDN","Zespół paznokciowo-palcowo-sutkowy"]},"cs":{"name":"MDN syndrom","synonyms":["MDN syndrome","Onycho-digito-mammary syndrome"]},"uk":{"name":"Синдром молочні залози-пальці-нігті","synonyms":["Синдром MDN","Оніхо-дигіто-мамарний синдром"],"definition":"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females."},"zh":{"name":"乳房-手指-指甲综合征","synonyms":["指甲-手指-乳房综合征"],"definition":"乳房-手指-指甲综合征是一种以先天性甲营养不良/甲缺如、第五指短指畸形、指趾异常为特征的肢体畸形综合征，伴有手足末节指骨缺失或发育不全，与青春期女性的乳腺肥大伴巨乳症有关。"},"tr":{"name":"Meme-dijital-tırnak sendromu","synonyms":["MDN sendromu","Oniko-dijito-meme sendromu"]}},"xrefs":[{"source":"OMIM","code":"613689","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013368","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150946","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":180170,"name":"Excess breast volume or number","classifications":[205]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":183731,"name":"Rare genetic gynecological and obstetrical diseases","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"20145678[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20145678[PMID]"}],"phenotypes":null}