{"orpha":436245,"name":"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinal dystrophy-juvenile cataract-short stature syndrome"],"definition":"A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436245/","orphanet_url":"https://www.orpha.net/en/disease/detail/436245","names":{"fr":{"name":"Syndrome de rétinite pigmentaire-cataracte juvénile-petite taille-déficience intellectuelle","synonyms":["Syndrome de dystrophie rétinienne-cataracte juvénile-petite taille"],"definition":"Dystrophie à bâtonnets prédominants syndromique rare, d'origine génétique, caractérisée par un retard de développement psychomoteur dès la petite enfance, une déficience intellectuelle, une petite taille, une légère dysmorphie faciale (fentes palpébrales inclinées vers le haut, hypoplasie des ailes du nez, hypoplasie malaire, lobes d'oreilles attachés), un écart considérable entre les dents et une malocclusion dentaire, une cataracte juvénile et des manifestations ophtalmologiques de rétinite pigmentaire atypique (c.-à-d. rétinopathie poivre et sel, artérioles rétiniennes atténuées, dysfonctionnement généralisé des bâtonnets, macula d'aspect moucheté, lésions de l'épithélium pigmentaire rétinien épargnant la région péripapillaire de la rétine)."},"de":{"name":"Retinitis pigmentosa-juvenile Katarakt-Kleinwuchs-Intelligenzminderung Syndrom","synonyms":["Netzhautdystrophie-juvenile Katarakt-Kleinwuchs-Syndrom"],"definition":"Eine seltene, genetisch bedingte, syndromale Stäbchen-Zapfen-Dystrophie, die gekennzeichnet ist durch psychomotorische Entwicklungsverzögerung ab der frühen Kindheit, Intelligenzminderung, Kleinwuchs, leichte Gesichtsdysmorphien (z.B. aufsteigende Lidachsen, hypoplastische Nasenflügel, Malarhypoplasie, angewachsenes Ohrläppchen), exzessive Zahnabstände und Zahnfehlstellungen, juvenile Katarakt und ophthalmologische Befunde einer atypischen Retinitis pigmentosa (d.h. Salz und Pfeffer-Retinopathie, abgeschwächte retinale Arteriolen, generalisierte Stäbchen-Zapfen-Dysfunktion, gesprenkelte Makula, peripapilläre Einsparung des retinalen Pigmentepithels)."},"es":{"name":"Síndrome de retinosis pigmentaria-catarata juvenil-talla baja-discapacidad intelectual","synonyms":["Síndrome de distrofia retiniana-catarata juvenil-talla baja"],"definition":"Es un trastorno genético sindrómico poco frecuente de distrofia de bastones y conos caracterizado por retraso del desarrollo psicomotor desde la primera infancia, discapacidad intelectual, talla baja, leve dismorfia facial (fisuras palpebrales elevadas, alas nasales hipoplásicas, hipoplasia malar, lóbulos de las orejas adheridas), excesivo espacio interdental y maloclusión, catarata juvenil y hallazgos oftalmológicos de retinitis pigmentosa atípica (es decir, retinopatía en \"sal y pimienta\", atenuación de las arteriolas retinianas, disfunción generalizada de bastones y conos, mácula moteada, conservación peripapilar del epitelio pigmentario de la retina)."},"it":{"name":"Sindrome retinite pigmentosa-cataratta giovanile-bassa statura-disabilità intellettiva","synonyms":["Sindrome distrofia retinica-cataratta giovanile-bassa statura"],"definition":"Si tratta di una distrofia sindromica rara dei coni e dei bastoncelli, di origine genetica, caratterizzata da ritardo dello sviluppo psicomotorio che esordisce nella prima infanzia, con disabilità intellettiva, bassa statura, dismorfismi facciali sfumati (rime palpebrali oblique verso l'alto, ali del naso ipoplastiche, ipoplasia malare, lobi delle orecchie aderenti), denti iperdistanziati e malocclusione, cataratta giovanile e segni indicativi di una retinite pigmentosa atipica (ad es. retinopatia con aspetto a ''sale e pepe'', attenuazione delle arteriole retiniche, disfunzione generalizzata dei coni e dei bastoncelli e macula a chiazze, in assenza di interessamento peripapillare dell'epitelio pigmentato della retina)."},"nl":{"name":"Retinitis pigmentosa - juveniel cataract - kleine gestalte - intellectuele achterstand-syndroom","synonyms":["Retinale dystrofie - juveniel cataract - kleine gestalte-syndroom"],"definition":"Een zeldzame, genetische, syndromale staaf-kegeldystrofie gekarakteriseerd door psychomotorische ontwikkelingsachterstand vanaf de vroege kindertijd, intellectuele achterstand, kleine gestalte, milde faciale dysmorfie (e.g. schuin naar boven hellende ooglidspleten, hypoplastische neusvleugels, hypoplasie van de jukbeenderen, vastgehechte oorlellen), ver uit elkaar staande tanden en malocclusie, juveniel cataract en oftalmologische bevindingen van atypische retinitis pigmentosa (i.e. zout-en-peper retinopathie, vernauwde retinale arteriolen, gegeneraliseerde disfunctie van staafjes en kegeltjes, gevlekte macula, peripapillaire uitsparing van het retinaal pigmentepitheel)."},"pt":{"name":"Síndrome de retinite pigmentosa-catarata juvenil-baixa estatura-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de distrofia da retina-cataracta juvenil-baixa estatura"]},"pl":{"name":"Zespół barwnikowego zwyrodnienia siatkówki, zaćmy młodzieńczej, niskiego wzrostu i niepełnosprawności intelektualnej","synonyms":["Zespół dystrofii siatkówki, zaćmy młodzieńczej i niskiego wzrostu"]},"cs":{"name":"Syndrom zahrnující retinitis pigmentosa, juvenilní kataraktu, malý vzrůst a mentální retardaci","synonyms":["Syndrom zahrnující retinální dystrofii, juvenilní kataraktu a malý vzrůst"]},"uk":{"name":"Синдром пігментної дегенерації сітківки-ювенільної катаракти-низькорослості-інтелектуальної недостатності","synonyms":["Синдром дистрофії сітківки - ювенільної катаракти - низького зросту"],"definition":"A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium)."},"zh":{"name":"色素性视网膜炎-青少年白内障-身材矮小-智力障碍综合征","synonyms":["视网膜营养不良-青少年白内障-矮小综合征"],"definition":"一种罕见的遗传综合征性杆状锥营养不良症，其特征是儿童早期出现精神运动发育迟缓，智力残疾，身材矮小，面部轻度畸形（例如，睑裂倾斜，鼻翼发育不良，黄斑发育不全，耳垂附着），牙齿间距过大和牙咬合不正，少年白内障和眼科检查结果提示非典型视网膜色素变性（例如，椒盐视网膜病变，视网膜小动脉退化，广泛的视锥锥功能障碍，斑驳的黄斑，视网膜色素上皮的周围乳突缺乏）。"},"tr":{"name":"Retinitis pigmentosa-jüvenil katarakt-kısa boy-zihinsel yetersizlik sendromu","synonyms":["Retina distrofi-jüvenil katarakt-kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"616108","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"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":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"RDH11","name":"retinol dehydrogenase 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24916380[PMID]","hgnc":"17964","ensembl":"ENSG00000072042","omim":"607849","loci":["14q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24916380[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24916380[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-05","source":"10420199[PMID]_24916380[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009907","label":"Attached earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007791","label":"Patchy atrophy of the retinal pigment epithelium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007965","label":"Undetectable visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null}]}}