{"orpha":2031,"name":"Hepatic fibrosis-renal cysts-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Thompson-Baraitser syndrome"],"definition":"Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2031/","orphanet_url":"https://www.orpha.net/en/disease/detail/2031","names":{"fr":{"name":"Syndrome de fibrose hépatique-kystes rénaux-déficience intellectuelle","synonyms":["Syndrome de Thompson-Baraitser"],"definition":"Déficience intellectuelle syndromique rare caractérisée par un retard de développement précoce et par un retard de croissance staturo-pondérale, une déficience intellectuelle, une fibrose hépatique congénitale, une dysplasie rénale kystique et une dysmorphie faciale (ptosis bilatéral, narines antéversées, palais ogival et micrognathie). D'autres caractéristiques, variables, ont été décrites, notamment des malformations cérébelleuses, une polydactylie post-axiale, une syndactylie, des anomalies génitales et une tachypnée. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Hepatische Fibrose-Nierenzysten-Intelligenzminderung-Syndrom","synonyms":["Syndromale Intelligenzminderung mit Leberfibrose und Nierenzysten","Thompson-Baraitser-Syndrom"]},"es":{"name":"Síndrome de fibrosis hepática-quistes renales-discapacidad intelectual","synonyms":["Síndrome de Thompson-Baraitser"],"definition":"El síndrome de fibrosis hepática - quistes renales - discapacidad intelectual, es un síndrome de discapacidad intelectual poco frecuente caracterizado por retraso del desarrollo temprano con fallo de medro, discapacidad intelectual, fibrosis hepática congénita, displasia renal quística y características faciales dismórficas (ptosis bilateral, narinas antevertidas, paladar ojival y micrognatia). Se han descrito características adicionales variables, que incluyen anomalías cerebelosas, polidactilia postaxial, sindactilia, anomalías genitales y taquipnea. No ha habido más casos descritos en la literatura desde 1987."},"it":{"name":"Sindrome da fibrosi epatica, cisti renali e disabilità intellettiva","synonyms":["Sindrome di Thompson-Baraitser"],"definition":"La sindrome che associa la fibrosi epatica, le cisti renali e la disabilità intellettiva è una disabilità intellettiva sindromica rara, caratterizzata da ritardo precoce dello sviluppo con ritardo della crescita, disabilità intellettiva, fibrosi epatica congenita, displasia cistica renale e dismorfismi facciali (ptosi bilaterale, narici anteverse, palato ogivale e micrognazia). Altri segni clinici variabili comprendono le anomalie cerebellari, la polidattilia postassiale, la sindattilia, le anomalie dei genitali e la tachipnea. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Hepatische fibrose - renale cysten - intellectuele achterstand-syndroom","synonyms":["Syndroom van Thompson-Baraitser"],"definition":"Hepatische fibrose - renale cysten - intellectuele achterstand-syndroom is een zeldzame, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door vroege ontwikkelingsachterstand met groeiachterstand, intellectuele achterstand, congenitale leverfibrose, cystische nierdysplasie, en dysmorfe gelaatskenmerken (bilaterale ptose, anteversie van de neusgaten, hoog gebogen verhemelte, en micrognathie). Er werden variabele bijkomende kenmerken gerapporteerd, waaronder cerebellaire anomalieën, postaxiale polydactylie, syndactylie, genitale anomalieën, en tachypneu. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de fibrose hepática-quistos renais-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Thompson-Baraitser"]},"pl":{"name":"Zwłóknienie wątroby - torbiele nerek - niepełnosprawność intelektualna","synonyms":["Zespół Thompsona i Baraitsera"],"definition":"*Zwłóknienie wątroby - torbiele nerek - niepełnosprawność intelektualna jest rzadkim zespołem niepełnosprawności intelektualnej, który charakteryzuje się wczesnym opóźnieniem rozwoju z brakiem prawidłowego rozwoju, niepełnosprawnością intelektualną, wrodzonym zwłóknieniem wątroby, dysplazją torbielowatą nerek i dysmorficznymi cechami twarzy (obustronne opadanie powiek, odwrócone nozdrza, wysokie podniebienie i małożuchwie). Opisywano różne dodatkowe cechy, w tym wady móżdżku, polidaktylię pozaosiową, syndaktylię, wady narządów płciowych, przyspieszony oddech. W literaturze od 1987 roku nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující hepatickou fibrózu, renální cysty a mentální retardaci","synonyms":["Thompsonův-Baraitserův syndrom","Thompson-Baraitserův syndrom"]},"uk":{"name":"Синдром фіброзу печінки-кісти нирок-інтелектуальної недостатності","synonyms":["Синдром Томпсона-Барайзера"],"definition":"Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987."},"zh":{"name":"肝纤维化-肾囊肿-智力障碍综合征","synonyms":["Thompson-Baraitser综合征"]},"tr":{"name":"Karaciğer fibrozu-böbrek kistleri-zihinsel yetersizlik sendromu","synonyms":["Thompson-Baraitser sendromu"]}},"xrefs":[{"source":"OMIM","code":"213010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008941","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931226","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3085498[PMID]_4430157[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3085498[PMID]_4430157[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}