{"orpha":2063,"name":"Splenogonadal fusion-limb defects-micrognathia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SGFLD syndrome"],"definition":"A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2063/","orphanet_url":"https://www.orpha.net/en/disease/detail/2063","names":{"fr":{"name":"Syndrome de fusion splénogonadique-anomalie transversale des membres-micrognathie","synonyms":["Syndrome SGFLD"],"definition":"Syndrome de dysostose rare caractérisé par la fusion anormale de la rate avec les gonades (ou plus rarement avec les reliquats du mésonéphros), des anomalies des membres (une amélie ou une réduction sévère conduisant à des membres supérieurs et/ou inférieurs rudimentaires), et des anomalies orofaciales telles qu'une fente palatine, une uvule bifide, une microglossie et une hypoplasie mandibulaire. D'autre manifestations peuvent aussi être associées, comme une cryptorchidie, une sténose/atrésie anale, des poumons hypoplasiques et des malformations cardiaques."},"de":{"name":"Splenogonadale Fusion-Extremitätenfehlbildung-Mikrognathie-Syndrom","synonyms":["SGFLD-Syndrom"],"definition":"Ein seltenes Dysostose-Syndrom, das durch eine abnorme Fusion der Milz mit der Gonade (oder seltener mit Resten des Mesonephros), Gliedmaßenanomalien (bestehend aus Amelie oder schweren Reduktionsdefekten, die zu rudimentären oberen und/oder unteren Gliedmaßen führen) und orofaziale Anomalien wie Gaumenspalte, bifides Zäpfchen, Mikroglossie und Unterkieferhypoplasie gekennzeichnet ist. Es kann auch mit anderen Fehlbildungen wie Kryptorchismus, Analstenose/atresie, hypoplastischen Lungen und kardialen Fehlbildungen einhergehen."},"es":{"name":"Síndrome de fusión esplenogonadal-anomalías de las extremidades-micrognatia","synonyms":["Síndrome SGFLD"],"definition":"Es un síndrome poco frecuente de disostosis caracterizado por la fusión anómala del bazo con las gónadas (o más rara vez con remanentes del mesonefros), anomalías de las extremidades (consistentes en amelia o defectos de reducción grave conducentes a extremidades superiores y/o inferiores rudimentarias) y anomalías orofaciales tales como paladar hendido, úvula bífida, microglosia e hipoplasia mandibular. También puede asociarse con otras malformaciones tales como criptorquidia, estenosis/atresia anal, pulmones hipoplásicos y malformaciones cardíacas."},"it":{"name":"Fusione splenogonadica - difetti degli arti - micrognatia","definition":"La fusione splenogonadica-difetti degli arti-micrognatia è una malattia rara da disostosi caratterizzata da anomalie della fusione tra la milza e la gonade (più raramente con i residui del mesonefro), anomalie degli arti (amelia o gravi difetti di riduzione che esitano nella formazione di arti superiori e/o inferiori rudimentali) ed anomalie oro-facciali (palatoschisi, ugola bifida, microglossia, ipoplasia mandibolare). Possono associarsi altri difetti, come il criptorchidismo, la stenosi/atresia anale, l'ipoplasia dei polmoni e le cardiopatie congenite."},"nl":{"name":"Splenogonadale fusie - ledemaatdefecten - micrognatie-syndroom","synonyms":["SGFLD-syndroom"],"definition":"Een zeldzaam syndroom van dysostose, gekenmerkt door abnormale fusie van milt met gonade (of in zeldzamere gevallen met restanten van mesonephros), ledemaatanomalieën (amelie of ernstige reductiedefecten die leiden tot rudimentaire bovenste en/of onderste ledematen) en orofaciale afwijkingen zoals gespleten gehemelte, bifide uvula, microglossie en hypoplasie van onderkaak. Het kan geassocieerd zijn met andere malformaties zoals cryptorchisme, stenose/atresie van anus, hypoplastische longen en hartmalformaties."},"pt":{"name":"Síndrome de fusão esplenogonadal-anomalias dos membros-micrognatia"},"pl":{"name":"Połączenie śledzionowo-mosznowe - wady kończyn - małożuchwie","synonyms":["SGFLD syndrome"],"definition":"Rzadki zespół dyzostozy charakteryzujący się nieprawidłowym zrostem śledziony z gonadami (lub rzadziej z pozostałościami śródnercza), nieprawidłowościami kończyn (obejmującymi amelię lub ciężkie wady redukujące, prowadzące do szczątkowych kończyn górnych i /lub dolnych) oraz nieprawidłowościami w obrębie jamy ustnej i twarzy, takimi jak rozszczep podniebienia, rozszczep języczka, mały język i niedorozwój żuchwy. Może być powiązany z innymi wadami rozwojowymi, takimi jak wnętrostwo, zwężenie/atrezja odbytu, niedorozwój płuc i wady serca."},"cs":{"name":"Syndrom zahrnující splenogonadální fúzi, končetinové defekty a mikrognatii","synonyms":["SGFLD syndrom"]},"uk":{"name":"Синдром спленогонадального зрощення-дефектів кінцівок-мікрогнатії","synonyms":["Синдром SGFLD"],"definition":"A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations."},"zh":{"name":"脾生殖腺融合-肢体缺陷-小颌畸形综合征","synonyms":["SGFLD综合征"]},"tr":{"name":"Splenogonadal füzyon-ekstremite defektleri-mikrognati sendromu","synonyms":["SGFLD sendromu"]}},"xrefs":[{"source":"OMIM","code":"183300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008460","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537318","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866745","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"10494091[PMID]_12884431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10494091[PMID]_12884431[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006333","label":"Crowded maxillary incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006283","label":"Multiple unerupted teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}