{"orpha":435953,"name":"Progeroid features-hepatocellular carcinoma predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ruijs-Aalfs syndrome"],"definition":"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435953/","orphanet_url":"https://www.orpha.net/en/disease/detail/435953","names":{"fr":{"name":"Syndrome d'apparence progéroïde avec prédisposition aux carcinomes hépatocellulaires","synonyms":["Syndrome de Ruijs-Aalfs"],"definition":"Syndrome familial rare avec prédisposition aux cancers caractérisé par un carcinome hépatocellulaire à apparition précoce, une instabilité génomique et des caractéristiques progéroïdes, à savoir, une petite taille, un faible poids, une atrophie musculaire, une lipodystrophie, des cataractes bilatérales et un grisonnement prématuré des cheveux. La dysmorphie cranio-faciale inclut un visage allongé, des yeux petits et profondément situés dans les orbites et une micrognathie. On a également rapporté une cyphoscoliose, des épaules tombantes, un léger <i>pectus excavatum</i>, des contractures bilatérales des coudes et des doigts, une clinodactylie bilatérale et des pieds plats."},"de":{"name":"Progeroide Merkmale-Hepatozelluläres Karzinom-Prädispositionssyndrom","synonyms":["Ruijs-Aalfs-Syndrom"],"definition":"Ein seltenes hereditäres Krebsprädisposition-Syndrom, das durch ein frühes Auftreten des hepatozellulären Karzinoms, genomische Instabilität und progeroide Merkmale wie Kleinwuchs, geringes Körpergewicht, Muskelatrophie, Lipodystrophie, bilateralen Katarakt und vorzeitiges Ergrauen der Haare gekennzeichnet ist. Zu den dysmorphen kraniofazialen Merkmalen gehören ein dreieckiges Gesicht, kleine, tief liegende Augen und Mikrognathie. Kyphoskoliose, schräge Schultern, leichter Pectus excavatum, beidseitige Kontrakturen der Ellenbogen und Finger, beidseitige Klinodaktylie und Pes planus wurden ebenfalls berichtet."},"es":{"name":"Síndrome de predisposición al carcinoma hepatocelular y a rasgos progeroides","synonyms":["Síndrome de Ruijs-Aalfs"],"definition":"Es un síndrome poco frecuente de predisposición al cáncer hereditario caracterizado por carcinoma hepatocelular de inicio precoz, inestabilidad genómica y características progeroides, tales como talla baja, bajo peso, atrofia muscular, lipodistrofia, cataratas bilaterales y encanecimiento prematuro del cabello. Los rasgos craneofaciales dismórficos incluyen cara triangular, ojos pequeños y hundidos y micrognatia. También se ha descrito cifoescoliosis, hombros caídos, ''pectus excavatum'' leve, contracturas bilaterales de codos y dedos de la mano, clinodactilia bilateral y pie plano."},"it":{"name":"Sindrome tratti progeroidi-predispozione al carcinoma epatocellulare","synonyms":["Sindrome di Ruijs-Aalfs"],"definition":"Si tratta di una malattia ereditaria rara che predispone allo sviluppo di tumori, caratterizzata dal carcinoma epatocellulare ad esordio precoce, instabilità genomica e tratti progeroidi (bassa statura, scarso peso corporeo, atrofia muscolare, lipodistrofia, cataratta bilaterale e incanutimento precoce). I dismorfismi facciali comprendono il visto triangolare, gli occhi piccoli e infossati e la micrognazia. I pazienti possono presentare anche cifoscoliosi, spalle cascanti, pectus excavatum lieve, contratture bilaterali del gomito e delle dita, clinodattilia bilaterale e piedi piatti."},"nl":{"name":"Progeroïde kenmerken - vatbaarheid voor hepatocellulair carcinoom-syndroom","synonyms":["Syndroom van Ruijs-Aalfs"],"definition":"Een zeldzaam hereditair tumorpredispositiesyndroom, gekarakteriseerd door vroeg aanvangend hepatocellulair carcinoom, genomische instabiliteit, en progeroïde kenmerken, zoals kleine gestalte, laag lichaamsgewicht, spieratrofie, lipodystrofie, bilateraal cataract, en premature vergrijzing. Dysmorfe craniofaciale kenmerken zijn onder meer driehoekig aangezicht, kleine en diepliggende ogen, en micrognathie. Kyfoscoliose, afhangende schouders, milde pectus excavatum (trechterborst), bilaterale contracturen van ellebogen en vingers, bilaterale clinodactylie, en pes planus (platvoet) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de características progeróides-predisposição para carcinoma hepatocelular","synonyms":["Síndrome Ruijs-Aalfs"]},"pl":{"name":"Zespół cech progeroidalnych i predyspozycji do raka wątrobowokomórkowego","synonyms":["Zespół Ruijsa i Aalfsa"]},"cs":{"name":"Syndrom zahrnující progeroidní rysy a predispozici k hepatocelulárnímu karcinomu","synonyms":["Ruijsové-Aalfsové syndrom","Ruijs-Aalfsové syndrom"]},"uk":{"name":"Синдром прогероїдних ознак-схильності до гепатоцелюлярної карциноми","synonyms":["Синдром Руїса-Альфса"],"definition":"A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported."},"zh":{"name":"早衰特征-肝细胞癌易感综合征","synonyms":["Ruijs-Aalfs综合征"]},"tr":{"name":"Progeroid özellikler-hepatoselüler karsinom yatkınlık sendromu","synonyms":["Ruijs-Aalfs sendromu"]}},"xrefs":[{"source":"OMIM","code":"616200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015461","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"SPRTN","name":"SprT-like N-terminal domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25261934[PMID]","hgnc":"25356","ensembl":"ENSG00000010072","omim":"616086","loci":["1q42.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25261934[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25261934[PMID]"}],"phenotypes":null}