{"orpha":423306,"name":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423306/","orphanet_url":"https://www.orpha.net/en/disease/detail/423306","names":{"fr":{"name":"Syndrome de microcephalie-petite taille-déficience intellectuelle-dysmorphie faciale","definition":"Syndrome malformatif génétique rare avec petite taille caractérisé par une microcéphalie postnatale, un retard de croissance et une petite taille, un retard global de développement et une déficience intellectuelle, une hypotonie, une dysmorphie (nez court, pont nasal déprimé, oreilles d'implantation basse, cou court, clinodactylie et syndactylie cutanée des 2<sup>es</sup>et 3<sup>es</sup> doigts à la naissance et front large, rétrusion de l'étage moyen de la face, plis épicanthaux, sourcils dégarnis sur les côtés, nez court, philtrum long, dents très espacées, micrognathie et, plus tard dans la vie, traits grossiers du visage). La maladie peut s'accompagner d'un oedème généralisé transitoire postnatal, d'une myopie, d'un strabisme et d'une hypothyroïdie."},"de":{"name":"Mikrozephalie-Kleinwuchs-Intelligenzminderung-Gesichtsdysmorphie-Syndrom"},"es":{"name":"Síndrome de microcefalia-talla baja-discapacidad intelectual-dismorfia facial","definition":"El síndrome de microcefalia - talla baja - discapacidad intelectual - dismorfia facial, es un síndrome malformativo genético y poco frecuente, caracterizado por microcefalia postnatal, fallo de medro y talla baja, retraso global del desarrollo y discapacidad intelectual, hipotonía, y anomalías dismórficas características: nariz corta, puente nasal deprimido, orejas de implantación baja, cuello corto, clinodactilia y sindactilia cutánea de 2º-3º dedos de los pies, así como frente ancha, retrusión del tercio medio facial, pliegues epicánticos, cejas lateralmente escasas, nariz corta, surco nasolabial largo, dientes muy separados, micrognatia y rasgos faciales toscos en la edad adulta). Otras características asociadas incluyen edema transitorio posnatal generalizado, miopía, estrabismo e hipotiroidismo."},"it":{"name":"Sindrome microcefalia-bassa statura-disabilità intellettiva-dismorfismi facciali","definition":"La sindrome che associa la microcefalia, la bassa statura, la disabilità intellettiva e i dismorfismi facciali è una malattia malformativa genetica rara con bassa statura, caratterizzata da microcefalia postnatale, ritardo della crescita e bassa statura, ritardo dello sviluppo globale, disabilità intellettiva, ipotonia, dismorfismi (naso corto, sella nasale infossata, orecchie a basso impianto, collo corto, clinodattilia e sindattilia cutanea del secondo e terzo dito del piede, fronte ampia, retrusione medio-facciale, epicanto, sopracciglia rade lateralmente, filtro lungo, denti iperdistanziati, micrognazia e, con il tempo, lineamenti grossolani ingravescenti). Altri segni clinici comprendono l'edema postnatale generalizzato transitorio, la miopia, lo strabismo e l'ipotiroidismo."},"nl":{"name":"Microcefalie - kleine gestalte - intellectuele achterstand - faciale dysmorfie-syndroom","definition":"Microcefalie - kleine gestalte - intellectuele achterstand - faciale dysmorfie-syndroom is een zeldzaam, genetisch malformatiesyndroom met kleine gestalte, en wordt gekarakteriseerd door postnatale microcefalie, groeiachterstand en kleine gestalte, algehele ontwikkelingsachterstand en intellectuele achterstand, hypotonie, dysmorfe kenmerken (korte neus, ingezakte neusbrug, laagstaande oren, korte hals/nek, clinodactylie en cutane syndactylie van T2-3 bij de geboorte, breed voorhoofd, terugliggend middengezicht, epicanthusplooien, lateraal schaarse wenkbrauwen, lang filtrum, ver uit elkaar staande tanden, micrognathie en verruwing van het gelaat op latere leeftijd). Andere geassocieerde kenmerken zijn onder meer postnataal transiënt gegeneraliseerd oedeem, myopie, strabisme, en hypothyreoïdie."},"pt":{"name":"Síndrome de microcefalia-baixa estatura-perturbação do desenvolvimento intelectual-dismorfia facial"},"pl":{"name":"Zespół małogłowie - niski wzrost - niepełnosprawność intelektualna - dysmorfia twarzy","definition":"*Zespół małogłowie - niski wzrost - niepełnosprawność intelektualna - dysmorfia twarzy to rzadki zespół wad rozwojowych z niskim wzrostem, który charakteryzuje się postnatalnym małogłowiem, zahamowaniem wzrostu i niskim wzrostem, całościowym opóźnieniem rozwoju i niepełnosprawnością intelektualną, obniżeniem napięcia mięśniowego, cechami dysmorfii (krótki nos, zapadnięty grzbiet nosa, nisko osadzone uszy, krótka szyja, widoczna przy urodzeniu klinodaktylia, skórna syndaktylia palców 2-3 stóp, szerokie czoło, cofnięcie środkowej części twarzy, zmarszczki nakątne, rzadkie brwi w odcinkach bocznych, krótki nos, długa rynienka podnosowa, szeroko rozstawione zęby, mikrognacja; w późniejszym okresie życia pogrubienie rysów twarzy). Towarzyszyć może przemijający uogólniony obrzęk poporodowy, krótkowzroczność, zez, niedoczynność tarczycy."},"cs":{"name":"Syndrom zahrnující mikrocefalii, malý vzrůst, mentální retardaci a faciální dysmorfismus"},"uk":{"name":"Синдром мікроцефалії-низькорослості-розумової відсталості-дисморфізму обличчя","definition":"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism."},"zh":{"name":"小头畸形-身材矮小-智力障碍-面部畸形综合征","definition":"小头畸形-矮小-智力低下-面部畸形综合征是一种罕见的遗传性畸形综合征合并矮小，特征是出生后小头畸形，生长受限，矮小，全面发育迟缓和智力残疾，肌张力减退，畸形特征（短鼻，鼻梁凹陷，耳位低，短颈，先天性指侧弯，皮肤并指畸形，T2-3，前额宽，中脸凹入，上眦褶皱，侧，侧面眉毛稀疏，短鼻子，人中长，牙齿间距大，小下颌和后期面部特征）。其他相关特征包括生后短暂性全身水肿，近视，斜视，甲状腺功能减退。"},"tr":{"name":"Mikrosefali-kısa boy-zihinsel yetersizlik-fasiyal dismorfizm sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749647","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":"QARS1","name":"glutaminyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28620870[PMID]","hgnc":"9751","ensembl":"ENSG00000172053","omim":"603727","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24709618[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24709618[PMID]"}],"phenotypes":null}