{"orpha":697067,"name":"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BCAS3-related neurodevelopmental disorder","Hengel-Maroofian-Schols syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by infancy/early childhood-onset severe global developmental delay (manifests mostly by delayed sitting and walking/inability to walk), severe intellectual disability with minimal or no speech, pyramidal signs (including lower limb spasticity, hyperreflexia, spastic gait and feet contractures), short stature, microcephaly and dysmorphic facial features (including a long face, strabismus, short philtrum, open mouth, full lips or everted lower lip and teeth abnormalities). Seizures and dystonic/dyskinetic movements may also be present in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-697067/","orphanet_url":"https://www.orpha.net/en/disease/detail/697067","names":{"fr":{"name":"Syndrome de retard global du développement-déficience intellectuelle-microcéphalie-petite taille-accumulation intracérébral de fer","synonyms":["Syndrome de Hengel-Maroofian-Schols","Trouble neurologique du développement associé à BCAS3"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard global et sévère de développement apparaissant dès la petite enfance (se manifestant principalement par un retard dans l'acquisition de la position assise et de la marche, voire une incapacité à marcher), une déficience intellectuelle sévère avec une parole minimale ou absente, des signes d'atteinte pyramidale (notamment une spasticité des membres inférieurs, une hyperréflexie, une démarche spastique et des contractures des pieds), une petite taille, une microcéphalie et une dysmorphie faciale (notamment un visage allongé, un strabisme, un philtrum court, une bouche ouverte, des lèvres charnues ou une lèvre inférieure éversée et des anomalies dentaires). Des crises épileptiques et des mouvements dystoniques/dyskinétiques peuvent également être présents chez certains patients."},"de":{"name":"Hengel-Maroofian-Schols-Syndrom","synonyms":["Neurologische Entwicklungsstörung, BCAS3-assoziierte","Syndromale globale Entwicklungsverzögerung mit Intelligenzminderung, Mikrozephalie, Kleinwuchs und Eisenakkumulation im Gehirn"]},"es":{"name":"Síndrome de retraso global del desarrollo-discapacidad intelectual-microcefalia-talla baja con acúmulo cerebral de hierro","synonyms":["Síndrome de Hengel-Maroofian-Schols","Trastorno del neurodesarrollo asociado a BCAS3"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-disabilità intellettiva-microcefalia-bassa statura-accumulo di ferro nel cervello","synonyms":["Sindrome di Hengel-Maroofian-Schols","Malattia del neurosviluppo correlata a BCAS3"]},"nl":{"name":"Algehele ontwikkelingsachterstand - intellectuele achterstand - microcefalie - kleine gestalte - accumulatie van ijzer in hersenen-syndroom","synonyms":["BCAS3-gerelateerde neurologische ontwikkelingsstroonis","HEMARS","Syndroom van Hengel-Maroofian-Schols"]},"pt":{"name":"BCAS3-related neurodevelopmental disorder"},"pl":{"name":"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome","synonyms":["BCAS3-related neurodevelopmental disorder","Hengel-Maroofian-Schols syndrome"]},"cs":{"name":"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome","synonyms":["BCAS3-related neurodevelopmental disorder","Hengel-Maroofian-Schols syndrome"]}},"xrefs":[{"source":"OMIM","code":"619641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"BCAS3","name":"BCAS3 microtubule associated cell migration factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34022130[PMID]","hgnc":"14347","ensembl":"ENSG00000141376","omim":"607470","loci":["17q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}