{"orpha":2538,"name":"Microgastria-limb reduction defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2538/","orphanet_url":"https://www.orpha.net/en/disease/detail/2538","names":{"fr":{"name":"Syndrome de microgastrie-anomalie des membres","definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une microgastrie congénitale et une asymétrie uni- ou bilatérale de la longueur des membres, associé parfois à l'absence ou l'hypoplasie des pouces, du radius, du cubitus et/ou une amélie. Une association a été rapportée avec diverses autres anomalies, notamment une malformation intestinale, une asplénie, une dysplasie rénale, une hypoplasie pulmonaire, une dysplasie du corps calleux et des anomalies génitales."},"de":{"name":"Mikrogastrie-Extremitätenreduktionsdefekt-Syndrom","synonyms":["Mikrogastrie mit Gliedmaßen-Reduktionsdefekt"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien, das durch kongenitale Mikrogastrie und einen ein- oder beidseitigen Gliedmaßenreduktionsdefekt gekennzeichnet ist, der fehlende oder hypoplastische Daumen, Radius, Ulna und/oder Amelie einschließen kann. Es wurde über eine Assoziation mit anderen variablen Anomalien berichtet, darunter Darmmalrotation, Asplenie, dysplastische Nieren, hypoplastische Lungen, dysplastisches Corpus collosum und abnorme Genitalien."},"es":{"name":"Síndrome de microgastria-anomalía de reducción de las extremidades","definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por microgastria congénita y un defecto de reducción uni- o bilateral de las extremidades, que puede incluir la ausencia o hipoplasia de pulgares, radio y cúbito y/o amelia. También se ha descrito la asociación con otras anomalías variables, incluyendo malrotación intestinal, asplenia, riñón displásico, hipoplasia pulmonar, displasia del cuerpo calloso y anomalías genitales."},"it":{"name":"Sindrome microgastria-difetto in riduzione degli arti","definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da microgastria congenita e difetto in riduzione degli arti mono- o bilaterale (aplasia o ipoplasia del pollice, del radio e dell'ulna e/o amelia). Può associarsi ad altre anomalie, che comprendono la malrotazione dell'intestino, l'asplenia, la displasia dei reni, l'ipoplasia dei polmoni, la displasia del corpo calloso e le anomalie dei genitali."},"nl":{"name":"Microgastrie - reductiedefect van ledemaat-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door congenitale microgastrie en uni- of bilateraal lengtedefect van ledemaat, waaronder afwezigheid of hypoplasie van duim, radius of ulna en/of amelie. Associatie met andere variabele anomalieën, waaronder intestinale malrotatie, asplenie, dysplastische nier, hypoplastische long, dysplastisch corpus callosum, en abnormale geslachtsorganen, werd gerapporteerd."},"pt":{"name":"Síndrome de microgastria-defeitos de redução dos membros"},"pl":{"name":"Mały żołądek - wada ubytkowa kończyny"},"cs":{"name":"Syndrom zahrnující mikrogastrii a redukční defekty končetin"},"uk":{"name":"Синдром мікрогастрію-редукції кінцівок","definition":"A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported."},"zh":{"name":"小胃-肢体短缩畸形综合征"},"tr":{"name":"Mikrogastri-ekstremite redüksiyonu defekti sendromu"}},"xrefs":[{"source":"OMIM","code":"156810","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":"1523739244"},{"source":"MONDO","code":"0007993","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537554","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303067","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108965,"name":"Syndromic gastroduodenal malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"12072798[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-18","source":null,"terms":[{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100841","label":"Microgastria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009827","label":"Amelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004871","label":"Perineal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025023","label":"Rectal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}