{"orpha":3042,"name":"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Primrose syndrome"],"definition":"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3042/","orphanet_url":"https://www.orpha.net/en/disease/detail/3042","names":{"fr":{"name":"Syndrome de déficience intellectuelle-cataracte-calcification du pavillon auriculaire-myopathie","synonyms":["Syndrome de Primrose"],"definition":"Le syndrome de déficience intellectuelle-cataracte-calcification du pavillon auriculaire-myopathie est un syndrome génétique rare de déficit intellectuel. Il se caractérise par une macrocéphalie, une hypotonie, une dysmorphie faciale (front large, ptose, fentes palpébrales obliques en bas et en dehors, oreille externe élargies et calcifiées, large mâchoire), des poils épars, une grande taille et un déficit intellectuel. A l'âge adulte, une surdité, un diabète insulino-résistant et une fonte musculaire distale progressive (conduisant à des contractures articulaires) ont aussi été rapportés. Les manifestations survenant dans de rares cas incluent des troubles du comportement (agression et agitation), une hypothyroïdie, une calcification cérébrale, une ataxie et une neuropathie périphérique."},"de":{"name":"Intelligenzminderung-Katarakt-kalzifizierte Ohrknorpel-Myopathie-Syndrom","synonyms":["Primrose-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Syndrom der Intelligenzminderung, das durch Makrozephalie, Hypotonie, dysmorphe Gesichtszüge (breite Stirn, Ptosis, nach unten hängende Lidspalten, vergrößerte und verkalkte äußere Ohren, großer Kiefer), spärliche Körperbehaarung, Hochwuchs und Intelligenzminderung gekennzeichnet ist. Im Erwachsenenalter wurden Schwerhörigkeit, insulinresistenter Diabetes und progressiver distaler Muskelschwund (der zu Gelenkkontrakturen führt) beobachtet. Zu den seltenen Manifestationen gehören Verhaltensanomalien (Aggression und Unruhe), Hypothyreose, zerebrale Verkalkung, Ataxie und periphere Neuropathie."},"es":{"name":"Síndrome de discapacidad intelectual-cataratas-calcificación auricular-miopatía","synonyms":["Síndrome de Primrose"],"definition":"El síndrome de discapacidad intelectual-cataratas-pabellón auditivo calcificado-miopatía es un síndrome genético poco frecuente de discapacidad intelectual caracterizado por macrocefalia, hipotonía, rasgos faciales dismórficos (frente amplia, ptosis, fisuras palpebrales inclinadas hacia abajo, agrandamiento y calcificación del oído externo, mandíbula grande), escaso vello corporal, estatura alta y discapacidad intelectual. En la edad adulta también se ha descrito pérdida auditiva, diabetes resistente a la insulina y desgaste progresivo de los músculos distales (que derivan en contracturas articulares). Las manifestaciones menos frecuentes incluyen trastornos conductuales (agresión e inquietud), el hipotiroidismo, la calcificación cerebral, la ataxia y la neuropatía periférica."},"it":{"name":"Sindrome disabilità intellettiva-cataratta-calcificazione del padiglione dell'orecchio-miopatia","synonyms":["Sindrome di Primrose"],"definition":"La disabilità intellettiva-cataratta-calcificazione dei padiglioni auricolari-miopatia è una malattia genetica rara da disabilità intellettiva, caratterizzata da macrocefalia, ipotonia, dismorfismi facciali (fronte ampia, ptosi, rime palpebrali oblique verso il basso, orecchio esterno ingrossato e calcificato, mascella grande), peli radi, alta statura e disabilità intellettiva. Nell'età adulta possono essere presenti anche sordità, diabete insulino-resistente e atrofia progressiva dei muscoli distali (che esita in contratture articolari). Raramente sono presenti anomalie del comportamento (aggressività ed irrequietezza), ipotiroidismo, calcificazioni cerebrali, atassia e neuropatia periferica."},"nl":{"name":"Intellectuele achterstand - cataract - verkalkte oorschelpen - myopathie-syndroom","synonyms":["Syndroom van Primrose"],"definition":"Intellectuele achterstand - cataracten - verkalkte oorschelpen - myopathie-syndroom is een zeldzaam, genetisch syndroom met intellectuele achterstand dat gekarakteriseerd wordt door macrocefalie, hypotonie, dysmorfe gelaatskenmerken (breed voorhoofd, ptose, neerwaartse ooglidspleten, grote en verkalkte buitenoren, grote kaak), schaarse lichaamsbeharing, grote gestalte, en intellectuele achterstand. Gehoorverlies, insulineresistente diabetes, en progressieve distale spieratrofie (die leidt tot gewrichtscontracturen) werden ook reeds gerapporteerd bij volwassenen. Zeldzame manifestaties zijn onder meer gedragsstoornissen (agressie en rusteloosheid), hypothyreoïdie, hersenverkalking, ataxie, en perifere neuropathie."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-cataratas-calcificações das cartilagens auriculares-miopatia","synonyms":["Síndrome Primrose"]},"pl":{"name":"Niepełnosprawność intelektualna - zaćma- zwapnienie małżowiny usznej - miopatia","synonyms":["Zespół Primrose'a"]},"cs":{"name":"Syndrom zahrnující mentální postižení, kataraktu, kalcifikaci ušních boltců a myopatii","synonyms":["Primroseův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-катаракти-кальцифікатів зовнішнього вуха-міопатії","synonyms":["Синдром первоцвіту"],"definition":"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy."},"zh":{"name":"智力障碍-白内障-耳廓钙化-肌病综合征","synonyms":["Primrose综合征"]},"tr":{"name":"Zihinsel yetersizlik-katarakt-kalsifiye pinna-miyopati sendromu","synonyms":["Primrose sendromu"]}},"xrefs":[{"source":"OMIM","code":"259050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009798","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4488","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"ZBTB20","name":"zinc finger and BTB domain containing 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25017102[PMID]","hgnc":"13503","ensembl":"ENSG00000181722","omim":"606025","loci":["3q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"27061120[PMID]_28462983[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28462983[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005103","label":"Calcification of the auricular cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005121","label":"Posterior scalloping of vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002868","label":"Narrow iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null}]}}