{"orpha":3304,"name":"Fallot complex-intellectual disability-growth delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bindewald-Ulmer-Müller syndrome"],"definition":"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3304/","orphanet_url":"https://www.orpha.net/en/disease/detail/3304","names":{"fr":{"name":"Syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle","synonyms":["Syndrome de Bindewald-Ulmer-Müller"],"definition":"Le syndrome tétralogie de Fallot-déficit intellectuel-retard de croissance est un syndrome exceptionnel associant une tétralogie de Fallot, une dysmorphie faciale discrète, un déficit intellectuel et un retard de croissance sévères."},"de":{"name":"Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen","synonyms":["Bindewald-Ulmer-Müller-Syndrom"],"definition":"Fallot-Komplex - intellektuelles Defizit - verzögertes Wachstum ist eine seltene Erkrankung mit Fallot'scher Tetralogie, kleinen Gesichtsanomalien und, in schwerer Ausprägung, mit intellektuellem Defizit und Wachstumsretardierung."},"es":{"name":"Síndrome de complejo de Fallot-discapacidad intelectual-retraso del crecimiento","synonyms":["Síndrome de Bindewald-Ulmer-Müller"],"definition":"Es un trastorno poco frecuente caracterizado por tetralogía de Fallot, anomalías faciales menores, y déficit intelectual y retraso del crecimiento graves."},"it":{"name":"Sindrome tetralogia di Fallot-disabilità intellettiva-ritardo della crescita","synonyms":["Sindrome di Bindewald-Ulmer-Müller"]},"nl":{"name":"Tetralogie van Fallot - intellectuele achterstand - groeiachterstand-syndroom","synonyms":["Syndroom van Bindewald-Ulmer-Müller"],"definition":"Een zeldzame aandoening, gekenmerkt door tetralogie van Fallot, minimale anomalieën van aangezicht, en ernstige intellectuele achterstand en groeiachterstand."},"pt":{"name":"Síndrome de complexo de Fallot-perturbação do desenvolvimento intelectual-atraso de crescimento","synonyms":["Síndrome Bindewald-Ulmer-Müller"],"definition":"O complexo de Fallot - défice cognitivo - atraso de crescimento é uma doença rara caracterizada por tetralogia de Fallot, anomalias faciais minor e défice cognitivo grave e atraso de crescimento."},"pl":{"name":"Kompleks Fallota - niepełnosprawność intelektualna - opóźnienie wzrostu","synonyms":["Zespół Bindewalda, Ulmera i Müllera"]},"cs":{"name":"Syndrom zahrnující Fallotovu tetralogii, mentální retardaci a opoždění růstu","synonyms":["Bindewaldové-Ulmerův-Müllerův syndrom","Bindewald-Ulmer-Müllerův syndrom"]},"uk":{"name":"Синдром комплекса Фалло-інтелектуальної недостатності-затримки росту","synonyms":["Синдром Біндевальда-Ульмера-Мюллера"],"definition":"Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay."},"zh":{"name":"法洛四联症-智力障碍-生长迟缓综合征","synonyms":["Bindewald-Ulmer-Müller综合征"]},"tr":{"name":"Fallot kompleksi-zihinsel yetersizlik-büyüme gecikmesi sendromu","synonyms":["Bindewald-Ulmer-Müller sendromu"]}},"xrefs":[{"source":"OMIM","code":"601127","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536608","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832735","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8010348[PMID]_15578610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8010348[PMID]_15578610[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-19","source":"15578610[PMID]_8010348[PMID]","terms":[{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011335","label":"Frontal hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005278","label":"Hypoplastic nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002623","label":"Overriding aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}