{"orpha":494439,"name":"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494439/","orphanet_url":"https://www.orpha.net/en/disease/detail/494439","names":{"fr":{"name":"Syndrome de rétinite pigmentaire-surdité-vieillissement prématuré-petite taille-dysmorphie faciale","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement avec une légère déficience intellectuelle, une petite taille, une dysmorphie faciale (cheveux clairsemés, front haut, yeux situés profondément dans les orbites, fentes palpébrales courtes et obliques, nez court, narines antéversées, pont nasal large avec une pointe nasale et une columelle larges, long philtrum, lèvre supérieure mince et oreilles implantées bas et tournées vers l'arrière), et une survenue variable de la surdité de perception et de la rétinite pigmentaire. Parmi les autres anomalies figurent d'autres anomalies oculaires, des anomalies des doigts, une hypothyroïdie et des signes de vieillissement prématuré. L'imagerie cérébrale met en évidence une atrophie cérébelleuse et une dysmyélinisation."},"de":{"name":"Retinitis pigmentosa-Hörverlust-vorzeitige Alterung-Kleinwuchs-Gesichtsdysmorphie-Syndrom","synonyms":["Retinitis pigmentosa-Schwerhörigkeit-vorzeitige Alterung-Kleinwuchs-Gesichtsdysmorphie-Syndrom","Retinitis pigmentosa-Taubheit-Hypothyreose-vorzeitige Alterung-charakteristische Gesichtsform-Syndrom"],"definition":"Ein genetisch bedingtes Fehlbildungssyndrom, das gekennzeichnet ist durch eine Entwicklungsverzögerung mit leichter Intelligenzminderung, Kleinwuchs, Gesichtsdysmorphien (spärliches Haar, hohe Stirn, tiefliegende Augen, kurze und aufsteigende Lidachsen, kurze Nase, antevertierte Nasenlöcher, breite Nasenbasis mit breiter Nasenspitze und breiter Columella, langes Philtrum, dünne Oberlippe und tief angesetzte, nach hinten gedrehte Ohren) sowie unterschiedlich stark ausgeprägte Innenohrschwerhörigkeit und Retinitis pigmentosa. Weitere Merkmale sind andere Augenanomalien, Anomalien der Finger, Hypothyreose und Anzeichen eines vorzeitigen Alterns. Die Bildgebung des Gehirns zeigt eine Atrophie des Kleinhirns und eine Dysmyelinisierung."},"es":{"name":"Síndrome de retinosis pigmentaria-hipoacusia-envejecimiento prematuro-talla baja-dismorfia facial","synonyms":["Síndrome de retinosis pigmentaria-sordera-envejecimiento prematuro-talla baja-dismorfia facial"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético, y poco frecuente caracterizado por retraso psicomotor acompañado de discapacidad intelectual leve, talla baja, dismorfia facial (incluyendo cabello escaso, frente ancha, ojos hundidos, fisuras palpebrales cortas e inclinadas hacia arriba, nariz corta, narinas antevertidas, base nasal amplia con punta nasal y columela anchas, filtrum largo, labio superior delgado y orejas de implantación baja rotadas posteriormente), así como pérdida auditiva neurosensorial y retinitis pigmentaria de inicio variable. Los hallazgos adicionales consisten en otras anomalías oculares, anomalías de los dedos de las manos, hipotiroidismo y signos de envejecimiento prematuro. La neuroimagen muestra atrofia cerebelosa y desmielinización."},"it":{"name":"Sindrome retinite pigmentosa-sordità-invecchiamento precoce-bassa statura-dismorfismi facciali","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo con lieve disabilità intellettiva, bassa statura, dismorfismi facciali (capelli radi, fronte alta, occhi infossati, rime palpebrali corte e oblique verso l'alto, naso corto, narici anteverse, base del naso larga con punta larga e columella ampia, filtro lungo, labbro superiore sottile e orecchie a basso impianto ruotate posteriormente), sordità neurosensoriale ad esordio variabile e retinite pigmentosa. I pazienti possono presentare anche anomalie oculari e delle dita, ipotiroidismo e invecchiamento precoce. Le neuroimmagini mostrano atrofia cerebellare e demielinizzazione."},"nl":{"name":"Retinitis pigmentosa - gehoorverlies - hypothyreoïdie - vroegtijdige veroudering - faciale dysmorfie-syndroom","synonyms":["Retinitis pigmentosa - doofheid - hypothyreoïdie - vroegtijdige veroudering - faciale dysmorfie-syndroom","Retinitis pigmentosa - gehoorverlies - hypothyreoïdie - vroegtijdige veroudering - karakteristieke gelaatsvorm-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door ontwikkelingsachterstand met milde intellectuele achterstand, kleine gestalte, faciale dysmorfie (zoals schaars haar, hoog voorhoofd, diepliggende ogen, korte en opwaarts hellende ooglidspleten, korte neus, anteversie van neusgaten, brede neusbasis, neuspunt en columella, lang filtrum, dunne bovenlip, en laagstaande en naar achteren gedraaide oren), en variabele aanvang van sensorineuraal gehoorverlies en retinitis pigmentosa. Bijkomende kenmerken zijn andere ooganomalieën, afwijkingen van vingers, hypothyreoïdie, en verschijnselen van vroegtijdige veroudering. Beeldvorming van hersenen toont cerebellaire atrofie en dysmyelinisatie."},"pt":{"name":"Síndrome de retinite pigmentosa-perda auditiva-envelhecimento prematuro-baixa estatura-dismorfia facial"},"pl":{"name":"Zespół zwyrodnienia barwnikowego siatkówki, niedosłuchu, przedwczesnego starzenia, niskiego wzrostu i dysmorfii twarzy","synonyms":["Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"]},"cs":{"name":"Syndrom zahrnující pigmentovou degeneraci sítnice, ztrátu sluchu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus","synonyms":["Syndrom zahrnující retinitis pigmentosa, hluchotu, hypotyreózu, předčasné stárnutí a faciální dysmorfismus","Syndrom zahrnující retinitis pigmentosa, ztrátu sluchu, hypotyreózu, předčasné stárnutí a typický fenotyp tváře"]},"uk":{"name":"Синдром пігментної дегенерації сітківки-втрати слуху-передчасного старіння-низькорослості- дисморфізму обличчя","synonyms":["Синдром пігментної дегенерації сітківки - глухоти - передчасного старіння - низького зросту - дисморфізму обличчя"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination."},"zh":{"name":"色素性视网膜炎-听力障碍-早衰-身材矮小-面部畸形综合征","synonyms":["色素性视网膜炎-耳聋-早衰-身材矮小-面部畸形综合征"]},"tr":{"name":"Retinitis pigmentosa-işitme kaybı-erken yaşlanma-kısa boy-fasyal dismorfizm sendromu","synonyms":["Retinitis pigmentosa-sağırlık-erken yaşlanma-kısa boy-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"617763","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044634","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567466","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"EXOSC2","name":"exosome component 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26843489[PMID]","hgnc":"17097","ensembl":"ENSG00000130713","omim":"602238","loci":["9q34.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26843489[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26843489[PMID]"}],"phenotypes":null}