{"orpha":3097,"name":"Meacham syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Meacham-Winn-Culler syndrome","Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"],"definition":"A very rare disorder of sex development characterized by atypical internal and external genital development, presenting as ambiguous or female-appearing external genitalia despite a 46,XY karyotype. It is also associated with diaphragmatic defects, complex congenital cardiac malformations, pulmonary abnormalities, and, in some cases, splenic and renal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3097/","orphanet_url":"https://www.orpha.net/en/disease/detail/3097","names":{"fr":{"name":"Syndrome de Meacham","synonyms":["Syndrome de Meacham-Winn-Culler","Syndrome de rhabdomyome-cardiopathie-anomalies génitales"],"definition":"Anomalie très rare du développement sexuel caractérisée par un développement atypique des organes génitaux externes et internes, donnant lieu à des organes génitaux externes ambigus ou féminins chez les individus avec un caryotype 46,XY. On observe par ailleurs une association avec des anomalies du diaphragme, des malformations cardiaques congénitales complexes, des anomalies pulmonaires et, dans certains cas, des anomalies de la rate et des reins."},"de":{"name":"Meacham-Syndrom","synonyms":["Meacham-Winn-Culler-Syndrom","Rhabdomyomatöse Dysplasia - Kardiopathie - Genitalanomalien"],"definition":"Eine sehr seltene Störung der Geschlechtsentwicklung (DSD), die durch eine atypische Entwicklung der inneren und äußeren Genitalien gekennzeichnet ist und sich trotz eines 46,XY-Karyotyps in Form von uneindeutigen oder weiblich erscheinenden äußeren Genitalien manifestiert. Weitere Merkmale sind Zwerchfellfehlbildungen, komplexe angeborene Herzfehlbildungen und Lungenanomalien. In einigen Fällen wurden auch Milz- und Nierenanomalien beschrieben."},"es":{"name":"Síndrome de Meacham","synonyms":["Rabdomioma-cardiopatía-anomalías genitales"],"definition":"Es un síndrome poco frecuente de desarrollo sexual diferente 46,XY caracterizado por anomalías genitales, malformaciones cardíacas congénitas y anomalías diafragmáticas. Los genitales externos ambiguos o femeninos están presentes en individuos con cariotipo 46,XY. Las anomalías genitales son variables y pueden incluir una vagina doble verdadera o una vagina septada, útero ausente, gónadas masculinas anómalas en presencia de genitales femeninos externos normales o pseudohermafroditismo masculino con genitales femeninos internos anómalos. Son frecuentes las cardiopatías congénitas cianóticas complejas (hipoplasia del pulmón derecho, retorno venoso pulmonar anómalo y anomalías del diafragma). También se puede observar displasia rabdomiomatosa pulmonar. Es una condición letal en el periodo neonatal."},"it":{"name":"Rabdomioma - cardiopatia - anomalie genitali","synonyms":["Sindrome di Meacham-Winn-Culler"],"definition":"La sindrome di Meacham è una sindrome con malformazioni multiple, caratterizzata da difetti congeniti del diaframma, dei genitali e cardiopatie."},"nl":{"name":"Syndroom van Meacham","synonyms":["Rhabdomyomateuze dysplasie - cardiopathie - genitale anomalieën-syndroom","Syndroom van Meacham-Winn-Culler"],"definition":"Een zeer zeldzame geslachtsontwikkelingsstoornis, gekenmerkt door ontwikkeling van atypische inwendige en uitwendige geslachtsorganen, en zich presenteert als ambigue of vrouwelijk uitziende uitwendige geslachtsorganen ondanks een 46,XY-karyotype. Het is ook geassocieerd met defecten van diafragma, complexe congenitale hartmalformaties, longafwijkingen, en in sommige gevallen milt- en nieranomalieën."},"pt":{"name":"Síndrome Meacham","synonyms":["Síndrome Meacham-Winn-Culler","Síndrome de displasia rabdomiomatosa-cardiopatia-anomalias genitais"]},"pl":{"name":"Zespół Meachama","synonyms":["Dysplazja prążkowanokomórkowa - kardiopatia - wady narządów płciowych","Zespół Meachama, Winna i Cullera"],"definition":"Rzadkie zespół zaburzeń różnicowania płci z kariotypem 46,XY charakteryzujący się nieprawidłowościami narządów płciowych i przepony oraz wrodzonymi wadami serca. U osób z kariotypem 46,XY występują obojnacze lub żeńskie zewnętrzne narządy płciowe. Nieprawidłowości narządów płciowych są zmienne i mogą obejmować prawdziwą podwójną pochwę lub przegrodę pochwową, brak macicy, nieprawidłowe gonady męskie przy obecności prawidłowych zewnętrznych żeńskich narządów płciowych lub męski pseudohermafrodytyzm z nieprawidłowymi wewnętrznymi żeńskimi narządami płciowymi. Częste są złożone sinicze wady serca (hipoplastyczne prawe płuco, nieprawidłowy spływ żylny płucny i nieprawidłowości przepony). Można również wystąpić dysplazja rabdomiomatyczna płuc. Jest to letalna choroba noworodków."},"cs":{"name":"Meachamové syndrom","synonyms":["Syndrom zahrnující rhabdomyomatózní dysplázii, kardiopatii a anomálie genitálu","Meachamové-Winnův-Cullerův syndrom","Meacham-Winn-Cullerův syndrom"]},"uk":{"name":"Синдром Мічема","synonyms":["Синдром Мічама-Вінна-Каллера","Синдром рабдоміоматозної дисплазії-кардіопатії-генітальних аномалій"],"definition":"Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations."},"zh":{"name":"Meacham综合征","synonyms":["横纹肌瘤性发育不良-心脏病-生殖器异常综合征"]},"tr":{"name":"Meacham sendromu","synonyms":["Meacham-Winn-Culler sendromu","Rabdomiyomatöz displazi-kardiyopati-genital anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"608978","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1307620543"},{"source":"MONDO","code":"0012164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837026","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17853480[PMID]_21959952[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"17853480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17853480[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-02","source":null,"terms":[{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030010","label":"Hydrometrocolpos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100632","label":"Pulmonary sequestration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001710","label":"Conotruncal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}