{"orpha":1120,"name":"Lung agenesis-heart defect-thumb anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mardini-Nyhan syndrome"],"definition":"A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1120/","orphanet_url":"https://www.orpha.net/en/disease/detail/1120","names":{"fr":{"name":"Syndrome d'agénésie pulmonaire-anomalie cardiaque-pouce triphalangé","synonyms":["Syndrome de Mardini-Nyhan"],"definition":"Maladie génétique rare caractérisée par l'association d'une agénésie pulmonaire unilatérale complète ou partielle, d'anomalies cardiaques congénitales complexes telles qu'une communication interauriculaire, un retour veineux pulmonaire total anormal ou une persistance du canal artériel, et d'anomalies ipsilatérales ou bilatérales du pouce. Une dysmorphie faciale et d'autres anomalies malformatives peuvent également être présentes."},"de":{"name":"Lungenagenesie-Herzfehler-Daumenanomalien-Syndrom","synonyms":["Mardini-Nyhan-Syndrom"],"definition":"Eine seltenes Syndrom, das durch die Assoziation von einseitiger kompletter oder partieller Lungenagenesie, komplexen angeborenen Herzanomalien wie Vorhofseptumdefekt, totalem anomalem pulmonalem Venenrückfluss oder patentem Ductus arteriosus und ipsilateralen oder bilateralen Daumenanomalien gekennzeichnet ist. Das Vorhandensein von Gesichtsdysmorphien und anderen Fehlbildungen wurde ebenfalls berichtet."},"es":{"name":"Síndrome de agenesia pulmonar-defecto cardíaco-anomalías del pulgar","synonyms":["Síndrome de Mardini-Nyhan"],"definition":"Es una enfermedad poco frecuente de origen genético caracterizada por la asociación de agenesia pulmonar unilateral completa o parcial, anomalías cardíacas congénitas complejas como comunicación interauricular, drenaje venoso pulmonar anómalo total o conducto arterioso permeable y anomalías del pulgar de forma ipsilateral o bilateral. También se ha descrito la presencia de dismorfia facial y otras características malformativas."},"it":{"name":"Sindrome agenesia polmonare-cardiopatia-anomalie del pollice","synonyms":["Sindrome di Mardini-Nyhan"],"definition":"La sindrome agenesia polmonare-cardiopatia-anomalie del pollice è molto rara ed è caratterizzata da agenesia polmonare completa o parziale, cardiopatie congenite e anomalie omolaterali del pollice."},"nl":{"name":"Longagenesie - hartdefect - duimanomalieën-syndroom","synonyms":["Syndroom van Mardini-Nyhan"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door de associatie van unilaterale volledige of gedeeltelijke agenesie van long, complexe congenitale hartanomalieën zoals atriumseptumdefect, totale abnormale pulmonale veneuze connectie, of persisterende ductus arteriosus, en ipsilaterale of bilaterale afwijkingen van duim. Aanwezigheid van faciale dysmorfie en andere malformatieve kenmerken werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de agenesia pulmonar-cardiopatia-anomalias dos polegares","definition":"Doença genética rara caracterizada pela associação de agenesia pulmonar unilateral completa ou parcial, anomalias cardíacas congénitas complexas, como defeito do septo auricular, retorno venoso pulmonar anómalo total ou persistência do canal arterial, e anomalias ipsilaterais ou bilaterais do polegar. Também foi reportada a presença de dismorfia facial e outras caraterísticas malformativas."},"pl":{"name":"Agnezja płuc - wada serca - anomalie kciuka","synonyms":["Zespół Mardini i Nyhan"],"definition":"Rzadka, genetycznie uwarunkowana choroba charakteryzująca się jednostronną całkowitą lub częściową agenezją płuc, złożonymi wrodzonymi wadami serca, takimi jak ubytek przegrody międzyprzedsionkowej, całkowity nieprawidłowy spływ żył płucny lub przetrwały przewód tętniczy oraz występujące po tej samej stronie lub obustronnie nieprawidłowości kciuka. Zgłaszano także występowanie dysmorfii twarzy i innych wad rozwojowych."},"cs":{"name":"Syndrom zahrnující plicní agenezi, srdeční defekt a anomálie prstů","synonyms":["Mardiniho-Nyhanův syndrom","Mardini-Nyhanův syndrom"]},"uk":{"name":"Синдром агенезії легень - вади серця - аномалії великого пальця","synonyms":["Синдром Мардіні-Ніхана"],"definition":"A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported."},"zh":{"name":"肺发育缺陷-心脏缺陷-拇指畸形综合征","synonyms":["Mardini-Nyhan综合征"]},"tr":{"name":"Akciğer agenezi-kalp defekti-başparmak anomalileri sendromu","synonyms":["Mardini-Nyhan sendromu"]}},"xrefs":[{"source":"OMIM","code":"601612","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[156]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25487726[PMID]_26513515[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"25487726[PMID]_26513515[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}