{"orpha":500095,"name":"Tall stature-intellectual disability-renal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Thauvin-Robinet-Faivre syndrome"],"definition":"A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500095/","orphanet_url":"https://www.orpha.net/en/disease/detail/500095","names":{"fr":{"name":"Syndrome de grande taille-déficience intellectuelle-anomalies rénales","synonyms":["Syndrome de Thauvin-Robinet-Faivre"],"definition":"Syndrome rare de grande taille associé à de multiples anomalies congénitales, caractérisé par une grande taille, de grandes mains et grands pieds, de grands pouces et un hallux valgus, des doigts « en forme de spatule », un retard de développement et une dysmorphie faciale"},"de":{"name":"Hochwuchs-Intelligenzminderung-renale Anomalien-Syndrom","synonyms":["Thauvin-Robinet-Faivre-Syndrom"],"definition":"Ein seltenes Grosswuchssyndrom, das mit multiplen kongenitalen Anomalien einhergeht und durch Hochwuchs, grosse Hände und Füsse mit grossen Daumen und Halluzinationen, spatelförmige Zehen, Entwicklungsverzögerung und Gesichtsdysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome de talla alta-discapacidad intelectual-anomalías renales","synonyms":["Síndrome de Thauvin-Robinet-Faivre"],"definition":"Es un síndrome poco frecuente de sobrecrecimiento asociado a múltiples anomalías congénitas caracterizado por talla alta, manos y pies grandes con pulgares y halluces largos, dedos espatulados, retraso psicomotor y dismorfia facial."},"it":{"name":"Sindrome alta statura - disabilità intellettiva - anomalie renali","definition":"Si tratta di una malattia rara da iperaccrescimento, associata ad anomalie congenite multiple, caratterizzata da alta statura, mani e piedi grandi con pollici e alluci grandi, dita a spatola, ritardo dello sviluppo e dismorfismi facciali."},"nl":{"name":"Grote gestalte - intellectuele achterstand - renale anomalieën-syndroom","synonyms":["Syndroom van Thauvin-Robinet-Faivre"],"definition":"Een zeldzaam overgroeisyndroom geassocieerd met multipele congenitale anomalieën, gekenmerkt door grote gestalte, grote handen en voeten met grote duimen en halluces, spatelvormige vingers/tenen, ontwikkelingsachterstand, en faciale dysmorfie."},"pt":{"name":"Síndrome de estatura elevada-perturbação do desenvolvimento intelectual-anomalias renais"},"pl":{"name":"Zespół wysokiego wzrostu, niepełnosprawności intelektualnej i wad nerek","synonyms":["Zespół Thauvin-Robinet i Faivrego"]},"cs":{"name":"Syndrom zahrnující vysoký vzrůst, mentální retardaci a vady ledvin","synonyms":["Thauvin-Robinet-Faivre syndrome","Thauvin-Robinet-Faivreové syndrom"]},"uk":{"name":"Синдром високорослості-інтелектуальної недостатності-ниркових аномалій","synonyms":["Синдром Товена-Робіне-Фейвра"],"definition":"A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism."},"zh":{"name":"身材高大-智力障碍-肾发育不良综合征","synonyms":["Thauvin-Robinet-Faivre syndrome"]},"tr":{"name":"Uzun boy-zihin engellilik-böbrek anomalileri sendromu","synonyms":["Thauvin-Robinet-Faivre sendromu"]}},"xrefs":[{"source":"OMIM","code":"617107","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310715","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]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"FIBP","name":"FGF1 intracellular binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27183861[PMID]","hgnc":"3705","ensembl":"ENSG00000172500","omim":"608296","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26660953[PMID]_27183861[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26660953[PMID]_27183861[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-17","source":"26660953[PMID]_27183861[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030037","label":"Bifid ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410252","label":"Chronic neutropenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004712","label":"Renal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410255","label":"Transient neutropenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031069","label":"Abnormal femoral torsion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001707","label":"Abnormal right ventricle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001847","label":"Long hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null}]}}