{"orpha":457365,"name":"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457365/","orphanet_url":"https://www.orpha.net/en/disease/detail/457365","names":{"fr":{"name":"Syndrome de déficience intellectuelle-faiblesse musculaire-petite taille-dysmorphie faciale","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une déficience intellectuelle, un retard de développement, un retard de l'âge osseux, une petite taille, une faiblesse musculaire généralisée et une dysmorphie faciale (sourcils fortement arqués, fentes palpébrales descendantes, nez proéminent, palais ogival et petite bouche). Parmi les autres manifestations rapportées, figurent les sclérotiques bleues, l'ophtalmoplégie et le tremblement intentionnel. L'imagerie cérébrale peut mettre en évidence des anomalies de la substance blanche."},"de":{"name":"Intelligenzminderung-Muskelschwäche-Kleinwuchs-Gesichtsdysmorphie-Syndrom","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch Intelligenzminderung, Entwicklungsverzögerung, verzögertes Knochenalter, Kleinwuchs, allgemeine Muskelschwäche und Gesichtsdysmorphien gekennzeichnet ist (z. B. hochgewölbte Augenbrauen, schräg abwärts verlaufende Lidspalten, vorstehende Nase, schmaler Gaumen und Mund). Zu den weiteren berichteten Manifestationen gehören blaue Skleren, Ophthalmoplegie und Intentionstremor. Die zerebrale Bildgebung kann Anomalien der weißen Substanz zeigen."},"es":{"name":"Síndrome de discapacidad intelectual-debilidad muscular-talla baja-dismorfia facial","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por discapacidad intelectual, retraso del desarrollo psicomotor y de la edad ósea, talla baja, debilidad muscular generalizada y rasgos faciales dismórficos (como cejas arqueadas, fisuras palpebrales descendentes, nariz prominente y paladar y boca estrechos). Otras manifestaciones descritas incluyen esclerótica azul, oftalmoplejía y temblor intencional. La neuroimagen puede mostrar anomalías en la sustancia blanca."},"it":{"name":"Sindrome disabilità intellettiva-debolezza muscolare-bassa statura-dismorfismi facciali","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva, ritardo dello sviluppo, ritardo dell'età ossea, bassa statura, diffusa debolezza muscolare e dismorfismi facciali (sopracciglia arcuate, rime palpebrali oblique verso il basso, naso prominente, palato e bocca stretti). I pazienti possono presentare anche sclere blu, oftalmoplegia e tremore intenzionale. Le neuroimmagini mostrano anomalie della sostanza bianca."},"nl":{"name":"Intellectuele achterstand - spierzwakte - kleine gestalte - faciale dysmorfie-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door intellectuele achterstand, ontwikkelingsachterstand, vertraagde botmaturatie, kleine gestalte, gegeneraliseerde spierzwakte, en dysmorfe gelaatskenmerken (waaronder hoog gebogen wenkbrauwen, schuin naar beneden hellende ooglidspleten, prominente neus, smal verhemelte en smalle mond). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer blauwe sclerae, oftalmoplegie, en intentietremor. Beeldvorming van hersenen toont mogelijk afwijkingen van witte stof."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-fraqueza muscular-baixa estatura-dismorfia facial"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, osłabienia mięśni, niskiego wzrostu i dysmorfii twarzy"},"cs":{"name":"Syndrom zahrnující mentální retardaci, svalovou slabost, malý vzrůst a faciální dysmorfismus"},"uk":{"name":"Синдром інтелектуальної недостатності-мязової слабкості-низькорослості-дисморфізму обличчя","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities."},"zh":{"name":"智力障碍-肌肉无力-身材矮小-面部畸形综合征"},"tr":{"name":"zihinsel yetersizlik-kas zayıflığı-kısa boy-yüz dismorfizm sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681124","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26192890[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26192890[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-13","source":"26192890[PMID]","terms":[{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}