{"orpha":659609,"name":"Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["RAC3-related syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay (in some patients also severe language deficiency), intellectual disability, hypotonia, peculiar brain malformations (including dysplastic corpus callosum, cortical malformations included dysgyria and polymicrogyria), and facial dysmorphism (including wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge and anteverted nares). Dysphagia, failure to thrive, seizures, musculoskeletal abnormalities (such as scoliosis, vertebral defects, pes planus and joint laxity) are also present in the majority of the patients. Additional clinical features may include dyspraxia, genitourinary, ocular, respiratory, endocrinological and behavioural abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659609/","orphanet_url":"https://www.orpha.net/en/disease/detail/659609","names":{"fr":{"name":"Syndrome de dysmorphie faciale-retard global de développement-hypotonie-polymicrogyrie","synonyms":["Syndrome associé à RAC3"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard global de développement (accompagné chez certains patients d'un trouble grave du langage), une déficience intellectuelle, une hypotonie, des malformations cérébrales particulières (notamment une dysplasie du corps calleux, des malformations corticales comprenant une dysgyrie et une polymicrogyrie) et une dysmorphie faciale (de type front large et bombé et une ligne frontale haute, yeux proéminents et fentes palpébrales orientées vers le haut, sourcils arqués, longs cils, hypoplasie de l'étage moyen de la face, pont nasal large et narines antéversées). Une dysphagie, un retard de croissance, des convulsions, des troubles musculo-squelettiques (scoliose, anomalies vertébrales, pieds plats et laxité articulaire) sont également présents chez la majorité des patients. D'autres manifestations cliniques peuvent inclure une dyspraxie, des anomalies génito-urinaires, oculaires, respiratoires, endocriniennes, ainsi que des troubles du comportement."},"de":{"name":"Gesichtsdysmorphie-globale Entwicklungsverzögerung-Hypotonie-Polymikrogyrie-Syndrom","synonyms":["Neuroentwicklungsstörung mit strukturellen Hirnanomalien und dysmorphen Gesichtszügen","RAC3-assoziiertes Syndrom"]},"es":{"name":"Síndrome de dismorfia facial-retraso global del desarrollo-hipotonía-polimicrogiria","synonyms":["Síndrome asociado a RAC3"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente, caracterizado por retraso global del desarrollo (acompañado en algunos pacientes de deficiencia grave del lenguaje), discapacidad intelectual, hipotonía, malformaciones cerebrales peculiares (incluyendo displasia del cuerpo calloso, malformaciones corticales como disgiria y polimicrogiria) y dismorfia facial (incluyendo frente ancha con abombamiento frontal y línea de implantación del cabello alta, ojos prominentes con fisuras palpebrales de inclinación ascendente, cejas arqueadas, pestañas largas, hipoplasia del tercio medio facial, puente nasal ancho y narinas antevertidas). La mayoría de los pacientes también presenta disfagia, fallo de medro, crisis epilépticas y anomalías musculoesqueléticas (como escoliosis, defectos vertebrales, pie plano e hiperlaxitud articular). Otras características clínicas pueden incluir dispraxia y anomalías genitourinarias, oculares, respiratorias, endocrinológicas y trastornos de la conducta."},"it":{"name":"Sindrome dismorfismi facciali-ritardo dello sviluppo globale-ipotonia-polimicrogiria","synonyms":["Sindrome correlata a RAC3"]},"nl":{"name":"Faciale dysmorfie - algehele ontwikkelingsachterstand - hypotonie - polymicrogyrie-syndroom","synonyms":["RAC3-gerelateerd syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door algehele ontwikkelingsachterstand (bij sommige patiënten ook ernstige taalstoornis), intellectuele achterstand, hypotonie, bijzondere hersenmalformaties (waaronder dysplastisch corpus callosum, corticale malformaties zoals dysgyrie en polymicrogyrie), en faciale dysmorfie (met onder meer breed en boller voorhoofd en hoge voorste haarlijn, prominente ogen met schuin naar boven hellende ooglidspleten, gebogen wenkbrauwen, lange wimpers, hypoplasie van middengezicht, brede neusbrug en anteversie van de neusgaten). Dysfagie, niet-gedijen, insulten, musculoskeletale afwijkingen (zoals scoliose, werveldefecten, platvoet en gewrichtslaxiteit) zijn ook aanwezig bij de meerderheid van de patiënten. Mogelijke bijkomende klinische kenmerken zijn dyspraxie, urogenitale, oculaire, respiratoire, en endocrinologische afwijkingen, en gedragsstoornissen."},"pt":{"name":"Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-hipotonia-polimicrogiria","synonyms":["Síndrome RAC3-relacionada"]},"pl":{"name":"Zespół z dysmorfią twarzy, globalnym opóżnieniem rozwoju, hipotonią i polimikrogyrią","synonyms":["RAC3-related syndrome"]},"cs":{"name":"Syndrom zahrnující faciální dysmorfii, celkové vývojové opoždění, hypotonii a polymikrogyrii","synonyms":["RAC3-related syndrome"]},"uk":{"name":"Синдром дисморфізму обличчя-глобальної затримки розвитку-гіпотонії-полімікрогірії","synonyms":["Синдром, повязаний з RAC3"]}},"xrefs":[{"source":"OMIM","code":"618577","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032820","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32820","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925138","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":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"RAC3","name":"Rac family small GTPase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"35851598[PMID]","hgnc":"9803","ensembl":"ENSG00000169750","omim":"602050","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"35851598[PMID]_30293988[PMID]"},{"type":"Lifetime Prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35851598[PMID]_30293988[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35851598[PMID]_30293988[PMID]_ORPHANET"}],"phenotypes":null}