{"orpha":247709,"name":"Multiple endocrine neoplasia type 2B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MEN2B","Multiple endocrine neoplasia type 3","Wagenmann-Froboese syndrome"],"definition":"A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247709/","orphanet_url":"https://www.orpha.net/en/disease/detail/247709","names":{"fr":{"name":"Néoplasie endocrinienne multiple type 2B","synonyms":["MEN2B","NEM2B","Néoplasie endocrinienne multiple type 3","Syndrome de Wagenmann-Froboese"],"definition":"Forme rare de syndrome de néoplasie endocrinienne multiple type 2 (MEN2), caractérisée par un carcinome médullaire agressif de la thyroïde en association avec d'autres tumeurs endocriniennes, notamment le phéochromocytome (affectant l'une ou les deux glandes surrénales). La maladie se manifeste généralement dans la petite enfance ou l'enfance et les patients présentent souvent un faciès typique (névromes muqueux affectant les lèvres et la langue et lèvres bosselées), des anomalies ophtalmologiques (alacrymie dans la petite enfance, paupières épaissies et éversées, ptosis léger et nerfs cornéens proéminents), des anomalies squelettiques (morphologie marfanoïde, visage long et étroit, pied creux, thorax en entonnoir, palais ogival, scoliose, hyperextensibilité articulaire et épiphysiolyse fémorale supérieure), et une ganglioneuromatose généralisée à l'ensemble des voies aérodigestives. Une constipation chronique, une distension abdominale, une diarrhée ou un mégacôlon à la naissance font souvent partie des manifestations initiales."},"de":{"name":"Multiple endokrine Neoplasie Typ 2B","synonyms":["MEN2B","Multiple endokrine Neoplasie Typ 3","Wagenmann-Froboese-Syndrom"],"definition":"Eine seltene Unterform der multiplen endokrinen Neoplasien vom Typ 2 (MEN2), die durch ein aggressives medulläres Schilddrüsenkarzinom in Kombination mit anderen endokrinen Tumoren, insbesondere dem Phäochromozytom, gekennzeichnet ist (eine oder beide Nebennieren können betroffen sein). Die Erkrankung beginnt meist im Säuglings- oder Kindesalter und die Patienten zeigen häufig typische faziale Merkmale (Schleimhautneurinome an Lippen und Zunge und höckerige Lippen), ophthalmologische Anomalien (Alakrima im Säuglingsalter, verdickte und hängende Augenlider, leichte Ptosis und hervortretende Hornhautnerven), Skelettanomalien (marfanoider Habitus, schmales, langes Gesicht, Pes cavus, Pectus excavatum, hochgewölbter Gaumen, Skoliose, hyperextensive Gelenke und verrutschte Epiphysen der Oberschenkelknochen) und generalisierte Ganglioneuromatose des gesamten Aerodigestivtraktes. Chronische Obstipation, Blähungen, Diarrhoe oder ein Megakolon bei der Geburt sind häufig die ersten Anzeichen."},"es":{"name":"Neoplasia endocrina múltiple tipo 2B","synonyms":["MEN2B","NEM2B","Neoplasia endocrina múltiple tipo 3","Síndrome de Wagenmann-Froboese"],"definition":"Es una forma poco común de síndrome de neoplasia endocrina múltiple tipo 2 (MEN2) caracterizada por un carcinoma medular de tiroides agresivo en asociación con otros tumores endocrinos, en particular feocromocitoma (una o ambas glándulas suprarrenales pueden verse afectadas). El inicio suele ser en la lactancia o en la infancia y los pacientes suelen tener una facies típica (neuromas mucosos de los labios y la lengua, y labios abultados), anomalías oftalmológicas (alacrimia en la infancia, párpados engrosados ​​y evertidos, ptosis leve y nervios corneales prominentes), anomalías esqueléticas (hábito corporal marfanoide, facies alargada y estrecha, pie cavo, pectus excavatum, paladar ojival, escoliosis, articulaciones hiperextensibles y deslizamiento de la epífisis femoral capital ) y una ganglioneuromatosis generalizada en todo el tracto aerodigestivo. El estreñimiento crónico, la distensión abdominal, la diarrea o el megacolon al nacimiento suelen ser las manifestaciones iniciales."},"it":{"name":"Neoplasia endocrina multipla, tipo 2B","synonyms":["MEN2B","Neoplasia endocrina multipla, tipo 3","Sindrome di Wagenmann-Froboese"],"definition":"Si tratta di una forma rara di neoplasia endocrina multipla tipo 2 (MEN2), caratterizzata da un carcinoma midollare aggressivo della tiroide associato ad altri tumori endocrini, in particolare il feocromocitoma (che interessa una o entrambe i surreni). Di solito la malattia esordisce nella prima infanzia o nell'infanzia. I pazienti presentano spesso una facies caratteristica (neuromi della mucosa delle labbra e della lingua, labbra irregolari), anomalie oculari (alacrimia nella prima infanzia, palpebre spesse e anteverse, lieve ptosi e nervi corneali prominenti), anomalie scheletriche (habitus marfanoide, viso stretto e allungato, piede cavo, pectus excavatum, palato ogivale, scoliosi, iperlassità articolare ed epifisiolisi della testa del femore) e una ganglioneuromatosi generalizzata del tratto aero-digestivo. I segni clinici d'esordio comprendono la costipazione cronica, la distensione addominale, la diarrea e il megacolon alla nascita."},"nl":{"name":"Multipele endocriene neoplasie type 2B","synonyms":["MEN2B","Meervoudige endocriene neoplasie type 2B","Multipele endocriene neoplasie type 3","Syndroom van Wagenmann-Froboese"],"definition":"Een zeldzame vorm van multipele endocriene neoplasie type 2 (MEN2)-syndroom, gekenmerkt door agressief medullair carcinoom van schildklier, in associatie met andere endocriene tumoren, vooral feochromocytoom (één of beide bijnieren kunnen aangetast zijn). De aandoening treedt doorgaans op in de zuigelingen- of kindertijd, en patiënten hebben vaak een typisch aangezicht (mucosale neuromen van lip en tong, knobbels op lippen), oftalmologische afwijkingen (alacrimie in de zuigelingentijd, verdikte en geëverteerde oogleden, milde ptosis, en prominente corneale zenuwen), skeletanomalieën (marfanoïde habitus, smal en lang gelaat, pes cavus (holvoet), pectus excavatum (trechterborst), hoog gebogen gehemelte, scoliose, hypermobiele gewrichten, en epifysiolyse van heupkop), en gegeneraliseerde ganglioneuromatose doorheen de aerodigestieve tractus. Chronische constipatie, abdominale distensie, diarree, of megacolon bij de geboorte zijn vaak de initiële manifestaties."},"pt":{"name":"Neoplasia endócrina múltipla, tipo 2B","definition":"Forma rara da síndrome de neoplasia endócrina múltipla tipo 2 (MEN2) caracterizada por carcinoma medular da tiróide agressivo em associação com outros tumores endócrinos, em particular feocromocitoma (uma ou ambas as glândulas suprarrenais podem estar afetadas). O início ocorre habitualmente na primeira infância ou infância e os doentes apresentam uma fácies típica (neuromas da mucosa dos lábios e da língua e lábios protuberantes), anomalias oftalmológicas (alacrima na infância, pálpebras espessadas e evertidas, ptose leve e nervos corneanos proeminentes), anomalias esqueléticas (habitus marfanoide, fácies longa estreita, pés cavos, pectus excavatum, palato arqueado alto, escoliose, articulações hiperextensíveis e epífises femorais capitais deslizantes) e uma ganglioneuromatose generalizada em todo o trato aerodigestivo. Obstipação crónica, distensão abdominal, diarreia ou megacólon ao nascimento são habitualmente as manifestações iniciais."},"pl":{"name":"Zespół gruczolakowatości wewnątrzwydzielniczej typu 2B","synonyms":["MEN2B","Zespół gruczolakowatości wewnątrzwydzielniczej typu 3","Zespół Wagenmanna i Froboese'a"]},"cs":{"name":"Mnohočetná endokrinní neoplázie, typ 2B","synonyms":["MEN-2B","Mnohočetná endokrinní neoplázie, typ 3","Wagenmannův-Froboeseův syndrom","Wagenmann-Froboeseův syndrom"]},"uk":{"name":"Множинна ендокринна неоплазія, тип 2B","synonyms":["MEN2B","Множинні ендокринні неоплазії типу 3","Синдром Вагенмана-Фробеса"],"definition":"A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations."},"zh":{"name":"多发性内分泌肿瘤2B型","synonyms":["多发性内分泌肿瘤3型"],"definition":"多发性内分泌肿瘤2B型（MEN2B）综合征是一种罕见的侵袭性型MEN2（见该词条），其特征包括甲状腺髓样癌（MTC，见该词条），嗜铬细胞瘤（见该词条），粘膜神经节瘤和马凡综合征样体型。"},"tr":{"name":"Çoklu endokrin neoplazi tip 2B","synonyms":["MEN2B","Wagenmann-Froboese sendromu","Çoklu endokrin neoplazi tip 3"]}},"xrefs":[{"source":"OMIM","code":"162300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D44.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1754393919"},{"source":"MONDO","code":"0008082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018814","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10225","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056420","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100091,"name":"Adrenal/paraganglial tumor","classifications":[193,202]},{"orpha":653,"name":"Multiple endocrine neoplasia type 2","classifications":[152,156,193,202]}],"children":[],"genes":[{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20833330[PMID]_20301434[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}