{"orpha":2886,"name":"TARP syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pierre Robin sequence-congenital heart defect-talipes syndrome","Pierre Robin syndrome-congenital heart defect-talipes syndrome","Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"],"definition":"TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2886/","orphanet_url":"https://www.orpha.net/en/disease/detail/2886","names":{"fr":{"name":"Syndrome TARP","synonyms":["Syndrome de Pierre Robin-malformations cardiaques-pieds bots","Syndrome de séquence de Pierre Robin-malformations cardiaques-pieds bots"],"definition":"Le syndrome TARP est un trouble rare du développement survenant au cours de l'embryogenèse. Il se caractérise par une séquence de Robin (micrognathie, glossoptose, fente palatine), une communication interatriale, une persistance de la veine cave supérieure gauche et des pieds bots varus équins. Le phénotype est variable. Certains patients présentent une dysmorphie faciale (par ex. hypertélorisme, anomalies auriculaires), tandis que d'autres n'ont pas de signes caractéristiques. Des signes additionnels ont été rapportés, comme une syndactylie, une polydactylie, ou des anomalies cérébrales (par ex. hypoplasie cérébelleuse). Le syndrome est presque invariablement létal. Les garçons affectés décèdent dans la période prénatale ou survivent pendant quelques mois."},"de":{"name":"TARP-Syndrom","synonyms":["Pierre-Robin-Sequenz-kongenitaler Herzdefekt-Klumpfuß-Syndrom","Pierre-Robin-Syndrom-Kardiopathie-Klumpfuß-Syndrom","Talipes equinovarus-Atriumseptumdefekt-Robin-Sequenz-persistierende linke obere Hohlvene-Syndrom"],"definition":"Das TARP-Syndrom ist ein seltener Entwicklungsdefekt während der Embryogenese, der durch Robin-Sequenz (Mikrognathie, Glossoptose und Gaumenspalte), Vorhofseptumdefekt, Persistenz der linken Vena cava superior und Talipes equinovarus gekennzeichnet ist. Der Phänotyp ist variabel, einige Patienten weisen weitere dysmorphe Merkmale auf (z.B. Hypertelorismus, Ohranomalien), während andere keine Schlüsselmerkmale ausweisen. Zusätzliche Manifestationen, wie Syndaktylie, Polydaktylie oder Hirnanomalien (z.B. Kleinhirnhypoplasie) sind möglich. Das Syndrom ist fast ausnahmslos letal, wobei Betroffene des männlichen Geschlechts entweder pränatal sterben oder nur wenige Monate alt werden."},"es":{"name":"Síndrome TARP","synonyms":["Síndrome de Pierre Robin-defecto congénito del corazón-pie zambo","Talipes equinovarus-defecto septal atrial-secuencia de Robin-persistencia de la vena cava superior izquierda"],"definition":"El síndrome TARP es un síndrome poco frecuente de defectos del desarrollo durante la embriogénesis caracterizado por la secuencia de Robin (micrognatia, glosoptosis y paladar hendido), defecto del tabique auricular, vena cava superior izquierda persistente y pie zambo. El fenotipo es variable, algunos pacientes presentan rasgos dismórficos adicionales (p.ej. hipertelorismo, anomalías de las orejas) mientras que otros no presentan ningún hallazgo clave. También se han descrito rasgos adicionales, tales como sindactilia, polidactilia, o anomalías cerebrales (p.ej. hipoplasia cerebelosa). El síndrome es casi siempre letal, con varones afectados que bien mueren de forma prenatal o viven solamente unos pocos meses."},"it":{"name":"Sindrome TARP","synonyms":["Piedi torti equino-vari - difetto del setto atriale - sequenza di Pierre Robin - persistenza della vena cava superiore sinistra","Sequenza di Pierre Robin - cardiopatia congenita - piedi torti","Sindrome di Pierre Robin - cardiopatia congenita - piedi torti"],"definition":"La sindrome TARP è un difetto raro dello sviluppo dell'embrione; è caratterizzata dalla sequenza di Robin (micrognatia, glossoptosi e palatoschisi), difetto del setto atriale, persistenza della vena cava superiore sinistra e piede toro equino-varo. Il quadro clinico è variabile; alcuni pazienti presentano altri dismorfismi (ipertelorismo, anomalie dell'orecchio), mentre alcuni pazienti non mostrano i segni caratteristici. Sono stati descritti anche casi di sindattilia, polidattilia e anomalie cerebrali (ipoplasia cerebellare). La malattia spesso è letale; i maschi affetti muoiono per lo più in epoca prenatale o nei primi mesi di vita. La sindrome è causata da una mutazione del gene RBM10 localizzato sul cromosoma Xp11.23, che codifica per una proteina che lega l'RNA."},"nl":{"name":"TARP-syndroom","synonyms":["Pierre Robin sequentie - congenitaal hartdefect - talipes-syndroom","Syndroom van Pierre Robin - congenitaal hartdefect - talipes-syndroom","Talipes equinovarus - atriumseptumdefect - Robin sequentie - persisterende linker vena cava superior-syndroom"],"definition":"TARP-syndroom is een zeldzaam syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door Robin sequentie (micrognathie, glossoptose, en gespleten verhemelte), atriumseptumdefect, persistentie van de linker bovenste holle ader, en talipes equinovarus (klompvoet). Het fenotype varieert, en sommige patiënten vertonen bijkomende dysmorfe kenmerken (e.g. hypertelorisme, oorafwijkingen), terwijl bij anderen geen voorname bevindingen aanwezig zijn. Bijkomende kenmerken zoals syndactylie, polydactylie, of hersenanomalieën (e.g. cerebellaire hypoplasie), werden ook gerapporteerd. Het syndroom is bijna altijd fataal, en getroffen mannen sterven ofwel prenataal ofwel enkele maanden na de geboorte."},"pt":{"name":"Síndrome TARP","synonyms":["Síndrome sequência Pierre-Robin-cardiopatia congénita-pés botos"]},"pl":{"name":"Zespół TARP","synonyms":["Sekwencja Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa","Stopa końsko-szpotawa - wada przegrody międzyprzedsionkowej - sekwencja Robina - przetrwała żyła główna górna lewa","Zespół Pierre'a i Robina - wrodzona wada serca - stopa końsko-szpotawa"]},"cs":{"name":"TARP syndrom","synonyms":["Syndrom zahrnující talipes equinovarus, defekt septa síní, Robinovu sekvenci a perzistentní levou horní dutou žílu","Syndrom zahrnující Pierre Robinovu sekvenci, vrozenou srdeční vadu a talipes","Syndrom zahrnující Pierre Robinův syndrom, vrozenou vadu srdce a talipes"]},"uk":{"name":"TARP-синдром","synonyms":["Синдром послідовності Пєра Робена - вроджена вада серця - таліпс","Синдром Пєра Робена - вроджена вада серця - синдром Таліпеса","Синдром Talipes equinovarus - дефекту міжпередсердної перегородки - послідовность Робена - персистенції лівої верхньої порожнистої вени"],"definition":"TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months."},"zh":{"name":"TARP综合征","synonyms":["马蹄内翻足-房间隔缺损-Robin序列征-永存左上腔静脉综合征"]},"tr":{"name":"TARP sendromu","synonyms":["Pierre Robin dizisi-doğumsal kalp defekti-yumru ayak sendromu","Pierre Robin sendromu-doğumsal kalp defekti-yumru ayak sendromu","Talipes ekinovarus-atriyal septal defekt-Robin dizisi-sol süperior vena kava sendromunun kalıcılığı"]}},"xrefs":[{"source":"OMIM","code":"311900","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":"194645275"},{"source":"MONDO","code":"0010711","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10089","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":363294,"name":"Genetic syndromic Pierre Robin syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":138044,"name":"Rare disease with Pierre Robin syndrome","classifications":[147,200,209]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"RBM10","name":"RNA binding motif protein 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21910224[PMID]","hgnc":"9896","ensembl":"ENSG00000182872","omim":"300080","loci":["Xp11.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"24259342[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24259342,[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-15","source":"30450804[PMID]_30462380[PMID]_12794682[PMID]_20451169[PMID]_5410571[PMID]","terms":[{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006434","label":"Hypoplasia of proximal radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000395","label":"Prominent antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004492","label":"Widely patent fontanelles and sutures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002246","label":"Abnormality of the duodenum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009085","label":"Alveolar ridge overgrowth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011445","label":"Athetoid cerebral palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Very rare (<4-1%)","criteria":null}]}}