{"orpha":580940,"name":"QRICH1-related intellectual disability-chondrodysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-580940/","orphanet_url":"https://www.orpha.net/en/disease/detail/580940","names":{"fr":{"name":"Syndrome de déficience intellectuelle-chondrodysplasie associé à QRICH1","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par l'association d'un retard de développement et d'une chondrodysplasie légère associée à une petite taille et à une morphologie anormale des plaques de croissance. Les traits caractéristiques de la dysmorphie sont inconstants et peuvent inclure un hypertélorisme, des fentes palpébrales inclinées vers le haut, un large nez et une large pointe nasale, ainsi que des oreilles d'implantation basse en forme de coupe. Des troubles du spectre autistique et des anomalies neurologiques ont également été rapportés."},"de":{"name":"Intelligenzminderung-Chondrodysplasie-Syndrom, QRICH1-assoziiert","definition":"Ein genetisch bedingtes multiples Dysmorphie-Syndrom, das durch die Assoziation von Entwicklungsverzögerung und leichter Chondrodysplasie mit Kleinwuchs und abnormaler Morphologie der Wachstumsplatte gekennzeichnet ist. Die Gesichtsdysmorphien sind variabel und können u. a. Hypertelorismus, aufsteigende Lidachsen, eine breite Nase mit breiter Nasenspitze und tief angesetzte, becherförmige Ohren umfassen. Es wurde auch über Autismus-Spektrum-Störungen und neurologische Anomalien berichtet."},"es":{"name":"Síndrome de discapacidad intelectual-condrodisplasia asociado a QRICH1","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por la asociación de retraso del desarrollo y condrodisplasia leve con talla baja y placas de crecimiento de morfología anómala. Los rasgos faciales dismórficos son variables y pueden incluir hipertelorismo, fisuras palpebrales ascendentes, nariz ancha con punta nasal amplia y orejas de implantación baja en forma de copa, entre otros. También se ha descrito la asociación con trastornos del espectro autista y anomalías neurológicas."},"it":{"name":"Sindrome da disabilità intellettiva e condrodisplasia correlata a QRICH1","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo, condrodisplasia lieve, bassa statura e anomalie della morfologia dei piatti di crescita. I dismorfismi facciali sono variabili e comprendono l'ipertelorismo, le rime palpebrali oblique verso l'alto, il naso largo con punta larga, e le orecchie a basso impianto a coppa. I pazienti possono presentare anche disturbi dello spettro autistico e anomalie neurologiche."},"nl":{"name":"QRICH1-gerelateerd intellectuele achterstand - chondrodysplasie-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de associatie van ontwikkelingsachterstand en milde chondrodysplasie met kleine gestalte en groeischijven met abnormale morfologie. Dysmorfe gelaatskenmerken zijn variabel, en omvatten mogelijk onder meer hypertelorisme, opwaarts hellende ooglidspleten, brede neus met brede neuspunt, en laagstaande, komvormige oren. Autismespectrumstoornis en neurologische afwijkingen werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-condrodisplasia QRICH1-relacionada","definition":"Anomalias congénitas múltiplas genéticas raras/síndrome dismórfica caracterizada pela associação de atraso no desenvolvimento e condrodisplasia leve com baixa estatura e morfologia anómala da placa de crescimento. As características faciais dismórficas são variáveis &#8203;&#8203;e podem incluir hipertelorismo, fissuras palpebrais inclinadas para cima, nariz amplo com ponta nasal larga e orelhas de implantação baixa em formato de copo, entre outros. Ocorrem relatos de perturbação do espectro do autismo e de anomalias neurológicas."},"pl":{"name":"Zespół niepełnosprawności intelektualnej i chondrodysplazji związany z QRICH1"},"cs":{"name":"Syndrom zahrnující mentální postižení a chondrodysplázii související s QRICH1"},"uk":{"name":"Інтелектуальна недостатність-хондродисплазія, повязані з QRICH1","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported."},"zh":{"name":"QRICH1基因相关智力障碍-软骨发育不良综合征"},"tr":{"name":"QRICH1-ilişkili zihinsel yetersizlik-kondrodisplazi sendromu"}},"xrefs":[{"source":"OMIM","code":"617982","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060707","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"60707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4693824","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":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"QRICH1","name":"glutamine rich 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28692176[PMID]_30281152[PMID]","hgnc":"24713","ensembl":"ENSG00000198218","omim":"617387","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"28692176[PMID]_30281152[PMID]_33009816[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28692176[PMID]_30281152[PMID]_33009816[PMID]_ORPHANET"}],"phenotypes":null}