{"orpha":477673,"name":"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477673/","orphanet_url":"https://www.orpha.net/en/disease/detail/477673","names":{"fr":{"name":"Syndrome de microcéphalie postnatale-hypotonie infantile-diplégie spastique-dysarthrie-déficience intellectuelle","definition":"Maladie neurologique génétique rare caractérisée par une microcéphalie postnatale, une hypotonie pendant la petite enfance suivie, dans la plupart des cas, d'une spasticité progressive affectant principalement les membres inférieurs, et d'une diplégie ou paraplégie spastique, d'une déficience intellectuelle, d'un retard ou d'une absence de parole et d'une dysarthrie. Des crises convulsives et une dysmorphie faciale légère ont été décrites chez certains patients."},"de":{"name":"Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom","definition":"Eine seltene genetisch bedingte neurologische Störung, die durch postnatale Mikrozephalie, Hypotonie im Säuglingsalter, in den meisten Fällen gefolgt von progressiver Spastik, die hauptsächlich die unteren Gliedmaßen betrifft, und spastischer Diplegie oder Paraplegie, Intelligenzminderung, verzögerter oder fehlender Sprache und Dysarthrie gekennzeichnet ist. Bei einigen Patienten sind Krampfanfälle und leichte Dysmorphien beschrieben worden."},"es":{"name":"Síndrome de microcefalia postnatal-hipotonía infantil-diplejía espástica-disartria-discapacidad intelectual","definition":"Es un trastorno neurológico genético poco frecuente, caracterizado por microcefalia postnatal, hipotonía durante la lactancia seguida en la mayoría de los casos de espasticidad progresiva afectando principalmente a las extremidades inferiores, y diplejía o paraparesia espástica, discapacidad intelectual, retraso o ausencia del habla y disartria. En algunos pacientes se han descrito crisis epilépticas y rasgos dismórficos leves."},"it":{"name":"Sindrome microcefalia postnatale-ipotonia neonatale-diplegia spastica-disartria-disabilità intellettiva","definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da microcefalia postnatale, ipotonia neonatale seguita, nella maggior parte dei pazienti, da spasticità progressiva che interessa per lo più gli arti inferiori, e da diplegia o paraplegia spastica, disabilità intellettiva, ritardo o assenza del linguaggio e disartria. Alcuni pazienti presentano crisi epilettiche e lievi dismorfismi."},"nl":{"name":"Postnatale microcefalie - infantiele hypotonie - spastische diplegie - dysartrie - intellectuele achterstand-syndroom","definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door postnatale microcefalie, hypotonie in de zuigelingentijd, in de meeste gevallen gevolgd door progressieve spasticiteit die hoofdzakelijk onderste ledematen treft, spastische diplegie of paraplegie, intellectuele beperking, vertraagde of afwezige spraak, en dysartrie. Bij sommige patiënten werden insulten en milde dysmorfe kenmerken beschreven."},"pt":{"name":"Síndrome de microcefalia pós-natal-hipotonia da infância-diplegia espástica-disartria-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół mikrocefalii postnatalnej, hipotonii niemowlęcej, diplegii spastycznej, dyzartrii i niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom postnatální mikrocefalie, infantilní hypotonie, spastické diplegie, dysartrie a intelektové nedostatečnosti"},"uk":{"name":"Синдром постнатальної мікроцефалії-інфантильної гіпотонії-спастичної диплегії-дизартрії- інтелектуальної недостатності","definition":"A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients."},"zh":{"name":"出生后小头畸形-小儿肌张力低下-痉挛性截瘫-构音障碍-智力障碍综合征","definition":"一种罕见的遗传性神经系统疾病，其特点是出生后小脑萎缩，婴儿期肌张力低下，大多数病例随后会出现主要影响下肢的进行性痉挛，并出现痉挛性瘫痪或截瘫、智力障碍、言语迟缓或缺失和构音困难。有些患者出现癫痫发作和轻度畸形特征。"},"tr":{"name":"Doğum sonrası mikrosefali-infantil hipotoni-spastik dipleji-dizartri-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"616281","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GPT2","name":"glutamic--pyruvic transaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25758935[PMID]_27601654[PMID]","hgnc":"18062","ensembl":"ENSG00000166123","omim":"138210","loci":["16q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25758935[PMID]_27601654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25758935[PMID]_27601654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-22","source":"27601654[PMID]_25758935[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011400","label":"Abnormal CNS myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}