{"orpha":659702,"name":"Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ARCN1-related syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth restriction, microcephaly, short stature, rhizomelic shortening and facial dysmorphism (including prominent forehead, downslanted palpebral fissures, bulbous nasal tip, large or prominent ears and notably severe micrognathia). Developmental delay is commonly reported, intellectual disability may also be present. Additional clinical features may include genitourinary malformations in males, transient liver dysfunction, glycosylation abnormalities, giant cell hepatitis, hepatoblastoma, and cataracts. Severity of the disease varies from mild to very severe which may lead to intrauterine death or stillbirth in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659702/","orphanet_url":"https://www.orpha.net/en/disease/detail/659702","names":{"fr":{"name":"Syndrome de retard de croissance intra-utérin-micrognathie-petite taille-raccourcissement mésomélique","synonyms":["Syndrome associé à ARCN1"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard de croissance intra-utérin, une microcéphalie, une petite taille, un raccourcissement rhizomélique et une dysmorphie faciale (de type front proéminent, fentes palpébrales orientées vers le bas, pointe nasale bulbeuse, oreilles grandes ou proéminentes et micrognathie particulièrement sévère). Un retard de développement est fréquemment rapporté, et une déficience intellectuelle peut être présente. D'autres manifestations cliniques peuvent inclure des malformations génito-urinaires chez les hommes, une insuffisance hépatique transitoire, des anomalies de glycosylation, une hépatite à cellules géantes, un hépatoblastome et une cataracte. La gravité de la maladie varie de légère à très sévère, et un décès in utero ou une mortinaissance peuvent s'en suivre dans certains cas."},"de":{"name":"Intrauterine Wachstumsretardierung-Mikrognathie-rhizomeler Kleinwuchs-Gesichtsdysmorphie-Syndrom","synonyms":["ARCN1-assoziiertes Syndrom","Kleinwuchs-Mikrognathie-Syndrom"]},"es":{"name":"Síndrome de retraso del crecimiento intrauterino-micrognatia-talla baja-dismorfia facial-acortamiento rizomélico","synonyms":["Síndrome asociado a ARCN1"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por restricción del crecimiento intrauterino, microcefalia, talla baja, acortamiento rizomélico y dismorfia facial (incluyendo frente prominente, fisuras palpebrales de inclinación descendente, punta nasal bulbosa, orejas grandes o prominentes y micrognatia particularmente grave). El retraso del desarrollo es frecuente, y también puede asociar discapacidad intelectual. Entre las características clínicas adicionales se incluyen malformaciones genitourinarias en varones, disfunción hepática transitoria, anomalías de la glicosilación, hepatitis de células gigantes, hepatoblastoma y cataratas. La gravedad de la enfermedad varía de leve a muy grave, pudiendo provocar la muerte fetal en algunos casos."},"it":{"name":"Sindrome ritardo della crescita prenatale-micrognazia-bassa statura-dismorfismi facciali-accorciamento rizomelico degli arti","synonyms":["Sindrome correlata a ARCN1"]},"nl":{"name":"Intra-uteriene groeiretardatie - micrognathie - kleine gestalte - faciale dysmorfie - rhizomele verkorting-syndroom","synonyms":["ARCN1-gerelateerd syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door intra-uteriene groeirestrictie, microcefalie, kleine gestalte, rhizomeel lengtedefect en faciale dysmorfie (met onder meer prominent voorhoofd, schuin naar beneden hellende ooglidspleten, bolvormige neuspunt, grote of afstaande oren, en opmerkelijk ernstige micrognathie). Ontwikkelingsachterstand wordt doorgaans gerapporteerd, en intellectuele achterstand kan ook aanwezig zijn. Mogelijke bijkomende klinische kenmerken zijn onder meer urogenitale malformaties bij mannen, voorbijgaande leverdisfunctie, afwijkingen van glycosylatie, reuscelhepatitis, hepatoblastoom, en cataract. De ernst van de ziekte varieert van mild tot zeer ernstig, met in sommige gevallen mogelijk intra-uteriene dood of doodgeboorte tot gevolg."},"pt":{"name":"Síndrome de restrição do crescimento intrauterino-micrognatia-baixa estatura-dismorfia facial-encurtamento rizomélico","synonyms":["Síndrome ARCN1-relacionada"]},"pl":{"name":"Zespół z opóźnieniem wzrastania wewnątrzmacicznego, mikrognacją, niskorosłością, dysmorfią twarzy i rizomelicznym skróceniem kończyn","synonyms":["ARCN1-related syndrome"]},"cs":{"name":"Syndrom zahrnující intrauterinní opoždění růstu, mikrognatii, malý vzrůst, faciální dysmorfii a rizomelické zkrácení","synonyms":["ARCN1-related syndrome"]},"uk":{"name":"Синдром внутрішньоутробної затримки росту-мікрогнатії-низькорослості-дизморфізму обличчя-ризомелічного вкорочення","synonyms":["Синдром, повязаний з ARCN1"]}},"xrefs":[{"source":"OMIM","code":"617164","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925140","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":[{"symbol":"ARCN1","name":"archain 1 coat protein complex I subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35300924[PMID]","hgnc":"649","ensembl":"ENSG00000095139","omim":"600820","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"35300924[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35300924[PMID]_ORPHANET"}],"phenotypes":null}