{"orpha":3169,"name":"Sirenomelia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3169/","orphanet_url":"https://www.orpha.net/en/disease/detail/3169","names":{"fr":{"name":"Sirénomélie","definition":"Anomalie congénitale létale rare représentant potentiellement la forme la plus sévère de dysgénésie caudale, caractérisée par la fusion des membres inférieurs (comparable à une queue de sirène) et toujours associée à des anomalies gastro-intestinales et génito-urinaires sévères. La variabilité phénotypique est, par ailleurs, très vaste et se traduit par des anomalies musculosquelettiques et cardiopulmonaires, ainsi que par des anomalies du système nerveux central. Anomalies pelviennes/sacrées de la colonne vertébrale, malformations des organes génitaux internes et externes, agénésie rénale, absence de vessie et atrésie rectale/anale sont fréquemment rapportées. La plupart des enfants sont mort-nés ou décèdent à la naissance, ou peu de temps après. La sirénomélie peut être classée selon les phénotypes de malformations des membres. En raison de similarités, la distinction entre sirénomélie, syndrome de régression caudale, dysgénésie caudale familiale et association VACTERL/VATER fait débat."},"de":{"name":"Sirenomelie","definition":"Eine seltene letale kongenitale Anomalie, die möglicherweise die schwerste Form der kaudalen Dysgenesie darstellt. Sie ist gekennzeichnet durch eine Verschmelzung der unteren Extremitäten (nixenartig), die immer mit schweren Anomalien des Urogenital- und Gastrointestinaltraktes einhergeht. Die phänotypische Variabilität ist darüber hinaus sehr groß und äußert sich in muskuloskelettalen und kardiopulmonalen Anomalien sowie in Anomalien des zentralen Nervensystems. Häufig wird über Becken-/Sakralanomalien der Wirbelsäule, Fehlbildungen der inneren und äußeren Genitalien, Agenesie der Nieren, fehlende Blase und Rektal-/Analatresie berichtet. Die meisten Kinder werden tot geboren oder sterben bei der Geburt oder kurz danach. Die Sirenomelie kann nach den Phänotypen der Gliedmaßenfehlbildungen klassifiziert werden. Aufgrund von Ähnlichkeiten wird die Unterscheidung zwischen Sirenomelie, kaudalem Regressionssyndrom, familiärer kaudaler Dysgenesie und der VACTERL/VATER-Assoziation diskutiert."},"es":{"name":"Sirenomelia","definition":"Es una anomalía congénita poco frecuente y letal que podría representar la forma más grave de disgenesia caudal y que se caracteriza por la fusión de las extremidades inferiores (tipo sirena) asociada en todos los casos a graves anomalías genitourinarias y gastrointestinales. Además, existe una amplia variabilidad fenotípica en las anomalías musculoesqueléticas, del sistema nervioso central y cardiopulmonares presentes. Se describen con frecuencia defectos pélvicos, sacros y espinales, defectos de los genitales internos y externos, agenesia renal, ausencia de vejiga y atresia rectal/ anal. La mayoría son casos de mortinatos o fallecimiento perinatal. La sirenomelia puede clasificarse en función de los fenotipos de las malformaciones de las extremidades. Debido a su similitud, se debate la distinción entre la sirenomelia y el síndrome de regresión caudal, la disgenesia caudal familiar y el VACTERL."},"it":{"name":"Sirenomelia","definition":"La sirenomelia è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dalla fusione degli arti inferiori, che si associa ad una riduzione delle estremità inferiori di grado variabile e alla persistenza dell'arteria vitellina. I pazienti presentano inoltre gravi malformazioni del sistema muscoloscheletrico (ad esempio, agenesia sacrale), dell'apparato urogenitale e della porzione inferiore del tratto gastrointestinale (agenesia renale, agenesia della vescica, atresia retto/anale, assenza dei genitali interni). Nella maggior parte dei casi i neonati nascono morti, oppure il decesso avviene prima, durante o poco dopo il parto."},"nl":{"name":"Sirenomelie","definition":"Een zeldzame, letale, congenitale anomalie die mogelijk de meest ernstige vorm van caudale dysgenesie vertegenwoordigt, gekenmerkt door fusie van onderste ledematen (zeemeermin-achtig), steeds geassocieerd met ernstige urogenitale en gastro-intestinale anomalieën. Verder is er een brede fenotypische verscheidenheid van musculoskeletale anomalieën, anomalieën van centraal zenuwstelsel en cardiopulmonale anomalieën aanwezig. Defecten van pelvis, sacrum en wervelkolom, defecten van inwendige en uitwendige geslachtsorganen, agenesie van nier, afwezige blaas, en atresie van rectum/anus worden vaak beschreven. De meeste gevallen worden dood geboren, of sterven tijdens of kort na de geboorte. Sirenomelie kan geclassificeerd worden op basis van fenotypes van ledemaatmalformaties. Vanwege de overeenkomsten is er discussie over het onderscheid tussen sirenomelie en caudale regressie-syndroom, familiale caudale dysgenesie en VACTERL."},"pt":{"name":"Sirenomelia","definition":"Anomalia congénita rara e letal que poderá representar a forma mais grave de disgenesia caudal e caracterizada pela fusão dos membros inferiores (semelhante a uma sereia) sempre associada a anomalias geniturinárias e gastrointestinais graves. Além disso, há grande variabilidade fenotípica das anomalias musculoesqueléticas, do sistema nervoso central e cardiopulmonares presentes. Defeitos pélvicos, sacrais e espinhais, defeitos genitais internos e externos, agenesia renal, bexiga ausente, atresia retal/anal habitualmente estão descritos. Na maioria das situações ocorre um nado-morto ou o falecimento ocorre durante ou logo após o nascimento. A sirenomelia pode ser classificada com base nos fenótipos de malformações dos membros. Devido à semelhança, a distinção entre sirenomelia e síndrome de regressão caudal, disgenesia caudal familiar e VACTERL é alvo de debate."},"pl":{"name":"Syrenomelia","definition":"Rzadka, śmiertelna, wrodzona wada, która może reprezentować najcięższą postać dysgenezji kaudalnej i charakteryzuje się zrośnięciem kończyn dolnych (jak u syreny), zawsze związanym z poważnymi wadami układu moczowo-płciowego i żołądkowo-jelitowego. Ponadto występuje duża zmienność fenotypowa w układzie mięśniowo-szkieletowym, ośrodkowym układzie nerwowym, układzie oddechowym i krążenia oraz zestawie wad. Często opisywano wady miednicy, kości krzyżowej i kręgosłupa, wady wewnętrznych i zewnętrznych narządów płciowych, agenezję nerek, brak pęcherza moczowego, zarośnięcie odbytnicy/odbytu. Większość dzieci dotkniętych chorobą rodzi się martwa, umiera w trakcie porodu lub wkrótce po nim. Sirenomelię można klasyfikować na podstawie fenotypów wad rozwojowych kończyn. Ze względu na podobieństwo dyskutowane jest rozróżnienie między sirenomelią a zespołem regresji kaudalnej, rodzinną dysgenezją kaudalną oraz VACTERL.inf brsup inf brsup"},"cs":{"name":"Sirenomelie"},"uk":{"name":"Сиреномелія","definition":"A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated."},"zh":{"name":"并腿畸形"},"tr":{"name":"Sirenomeli"}},"xrefs":[{"source":"OMIM","code":"600145","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"473306797"},{"source":"MONDO","code":"0017850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7652","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072457","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":444941,"name":"Caudal regression-sirenomelia spectrum","classifications":[147,156,182,185,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.04,"area":"France","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Italy","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.64,"area":"Spain","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.54,"area":"Netherlands","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Finland","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Slovakia","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Hungary","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"United States","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Canada","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"China","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.79,"area":"Australia","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.36,"area":"Mexico","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.36,"area":"Latin America","status":"Validated","source":"22002878[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Colombia","status":"Validated","source":"22030798[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"Worldwide","status":"Not yet validated","source":"22002878[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.71,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010305","label":"Absence of the sacrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010497","label":"Sirenomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null}]}}