{"orpha":457485,"name":"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MINDS syndrome","Smith-Kingsmore syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457485/","orphanet_url":"https://www.orpha.net/en/disease/detail/457485","names":{"fr":{"name":"Syndrome de macrocéphalie-déficience intellectuelle-trouble neurologique du développement-petit thorax","synonyms":["Syndrome de Smith-Kingsmore","syndrome MINDS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare avec déficience intellectuelle, caractérisé par une macrocéphalie, une déficience intellectuelle, des crises convulsives et une dysmorphie faciale (front haut, fentes palpébrales inclinées vers le bas, hypertélorisme, pont nasal déprimé et macrostomie), une mégalencéphalie et un petit thorax. Parmi les autres signes rapportés figurent : hernie ombilicale, hypotonie musculaire, retard global de développement, comportement autistique et taches café au lait, entre autres."},"de":{"name":"Makrozephalie-Intelligenzminderung-neurologische Entwicklungsstörungen-schmaler Thorax-Syndrom","synonyms":["MINDS-Syndrom","Smith-Kingsmore-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien/Dysmorphien und assoziierter Intelligenzminderung. Es ist gekennzeichnet durch Makrozephalie, intellektuelle Beeinträchtigung, Krampfanfälle, Gesichtsdysmorphien (u. a. hohe Stirn, schräg abwärts verlaufende Lidspalten, Hypertelorismus, vertiefter Nasenrücken und Makrostomie), Megalenzephalie und schmalen Thorax. Zu den weiteren berichteten Merkmalen gehören u.a. Nabelhernie, muskuläre Hypotonie, globale Entwicklungsverzögerung, autistisches Verhalten und Café-au-lait-Flecken."},"es":{"name":"Síndrome de macrocefalia-discapacidad intelectual-trastorno del neurodesarrollo-tórax angosto","synonyms":["Síndrome MINDS","Síndrome de Smith-Kingsmore"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente asociado a discapacidad intelectual y caracterizado por macrocefalia, crisis, rasgos faciales dismórficos (que incluyen frente alta, fisuras palpebrales descendentes, hipertelorismo, puente nasal deprimido y macrostomía), megalencefalia y tórax pequeño. Otras características descritas incluyen hernia umbilical, hipotonía muscular, retraso global del desarrollo psicomotor, comportamiento autista y manchas café con leche, entre otras."},"it":{"name":"Sindrome macrocefalia-disabilità intellettiva-disturbo dello sviluppo neurologico-torace piccolo","synonyms":["Sindrome Smith-Kingsmore","Sindrome MINDS"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli associata alla disabilità intellettiva, caratterizzata da macrocefalia, disabilità intellettiva, crisi epilettiche, dismorfismi facciali (fronte alta, rime palpebrali oblique verso il basso, ipertelorismo, sella nasale infossata, e macrostomia), megalencefalia e torace piccolo. Altri segni clinici sono l'ernia ombelicale, l'ipotonia muscolare, il ritardo dello sviluppo globale, i tratti autistici e le macchie caffè-latte."},"nl":{"name":"Macrocefalie - intellectuele achterstand - neurologische ontwikkelingsstoornis - kleine thorax-syndroom","synonyms":["MINDS-syndroom","Syndroom van Smith-Kingsmore"],"definition":"Een zeldzaam multipele congenitale anomalieën/dysmorfie-syndroom met intellectuele achterstand, gekarakteriseerd door macrocefalie, intellectuele beperking, insulten, dysmorfe gelaatskenmerken (inclusief groot voorhoofd, schuin naar beneden hellende ooglidspleten, hypertelorisme, ingezakte neusbrug, en macrostomie), megalencefalie, en kleine thorax. Overige gerapporteerde kenmerken zijn onder meer navelbreuk, spierhypotonie, algehele ontwikkelingsachterstand, autistisch gedrag, en café-au-lait vlekken."},"pt":{"name":"Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-perturbação neurocomportamental-toráx estreito","synonyms":["Síndrome MINDS","Síndrome Smith-Kingsmore"]},"pl":{"name":"Zespół wielkogłowia, niepełnosprawności intelektualnej, zaburzeń rozwojowych układu nerwowego i małej klatki piersiowej","synonyms":["Zespół MINDS"]},"cs":{"name":"Syndrom zahrnující makrocefalii, mentální retardaci, neurovývojové poruchy a malý hrudník","synonyms":["MINDS syndrom"]},"uk":{"name":"Синдром макроцефалії-інтелектуальної недостатності-порушення нейророзвитку-малої грудної клітки","synonyms":["Синдром MINDS","Синдром Сміта-Кінгсмора"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others."},"zh":{"name":"巨颅畸形-智力发育迟缓-神经发育迟缓-小胸廓-综合征","synonyms":["史密斯·金斯莫尔综合征"],"definition":"一种罕见的多发性先天性异常/畸形综合征，伴有智力障碍，其特征为大头畸形、智力障碍、癫痫发作、面部畸形（包括高额头、下睑裂、高鼻梁、鼻梁凹陷和大口畸形）、巨头畸形和小胸。其他报道的特征包括脐疝、肌肉张力低下、全面发育迟缓、自闭症行为和咖啡牛奶样色素斑等。"},"tr":{"name":"Makrosefali-zihinsel yetersizlik-nörogelişimsel bozukluk-küçük toraks sendromu","synonyms":["MINDS sendromu","Smith-Kingsmore sendromu"]}},"xrefs":[{"source":"OMIM","code":"616638","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225259","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13636","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]}],"children":[],"genes":[{"symbol":"MTOR","name":"mechanistic target of rapamycin kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25851998[PMID]_26542245[PMID]","hgnc":"3942","ensembl":"ENSG00000198793","omim":"601231","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"27753196[PMID]_DOI:10.4137/JGE.S12583[OTHER]_25851998[PMID]_26542245[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27753196[PMID]_DOI:10.4137/JGE.S12583[OTHER]_25851998[PMID]_26542245[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-09","source":"28892148[PMID]_27830187[PMID]_27753196[PMID]_26542245[PMID]_25851998[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001355","label":"Megalencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004789","label":"Lactose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005266","label":"Intestinal polyp","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Very rare (<4-1%)","criteria":null}]}}