{"orpha":457351,"name":"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome"],"definition":"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457351/","orphanet_url":"https://www.orpha.net/en/disease/detail/457351","names":{"fr":{"name":"Syndrome de microcéphalie-déficience intellectuelle-surdité neurosensorielle-épilepsie-tonus musculaire anormal","definition":"Maladie génétique rare caractérisée par une microcéphalie, un retard de développement global, une déficience intellectuelle, un tonus musculaire anormal et une surdité neurosensorielle. Les autres signes cliniques variables sont l'épilepsie, une déficience visuelle corticale, des troubles gastro-intestinaux, un retard de croissance, une scoliose, ainsi qu'une immunodéficience et une thrombocytopénie. L'IRM peut révéler une atrophie cérébrale, une dysgénésie du corps calleux et une hypomyélinisation."},"de":{"name":"Mikrozephalie-Intelligenzminderung-sensorineuraler Hörverlust-Epilepsie-abnormer Muskeltonus-Syndrom","synonyms":["NEDHSB","Neurologische Entwicklungsstörung mit Hörverlust, Krampfanfällen und Hirnanomalien"],"definition":"Eine seltene genetische Erkrankung, die durch Mikrozephalie, globale Entwicklungsverzögerung, Intelligenzminderung, abnormalen Muskeltonus und sensorineurale Hörstörungen gekennzeichnet ist. Weitere variable Erscheinungsformen sind Epilepsie, kortikale Sehstörungen, gastrointestinale Störungen, Wachstumsstörungen, Skoliose sowie Immunschwäche und Thrombozytopenie. Die Bildgebung des Gehirns kann eine zerebrale Atrophie, ein dünnes Corpus Callosum und eine Hypomyelinisierung zeigen."},"es":{"name":"Síndrome de microcefalia-discapacidad intelectual-hipoacusia neurosensorial-epilepsia-trastorno del tono muscular","synonyms":["Síndrome de microcefalia-discapacidad intelectual-sordera neurosensorial-epilepsia-trastorno del tono muscular"],"definition":"Es una enfermedad de base genética poco frecuente caracterizada por microcefalia, retraso global del desarrollo, discapacidad intelectual, alteración del tono muscular y alteración auditiva neurosensorial. Otras manifestaciones variables adicionales incluyen epilepsia, alteración visual cortical, trastornos gastrointestinales, restricción del crecimiento y escoliosis, así como inmunodeficiencia y trombocitopenia. Las neuroimágenes pueden mostrar atrofia cerebral, adelgazamiento del cuerpo calloso e hipomielinización."},"it":{"name":"Sindrome microcefalia-disabilità intellettiva-sordità neurosensoriale-epilessia-anomalie del tono muscolare","definition":"Si tratta di una malattia genetica rara, caratterizzata da microcefalia, ritardo dello sviluppo globale, disabilità intellettiva, anomalie del tono muscolare e sordità neurosensoriale. Altri segni clinici variabili sono l'epilessia, la compromissione corticale della vista, i disturbi gastrointestinali, il ritardo della crescita, la scoliosi, l'immunodeficienza e la trombocitopenia. Le neuroimmagini evidenziano atrofia cerebrale, assottigliamento del corpo calloso e ipomielinizzazione."},"nl":{"name":"Microcefalie - intellectuele achterstand - sensorineuraal gehoorverlies - epilepsie - abnormale spiertonus-syndroom","synonyms":["Microcefalie - intellectuele achterstand - sensorineurale doofheid - epilepsie - abnormale spiertonus-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door microcefalie, algehele ontwikkelingsachterstand, intellectuele achterstand, abnormale spiertonus, en sensorineuraal gehoorverlies. Bijkomende variabele manifestaties zijn onder meer epilepsie, corticale visuele stoornis, gastro-intestinale stoornissen, groeirestrictie, scoliose, alsook immuundeficiëntie en trombocytopenie. Beeldvorming van hersenen toont mogelijk cerebrale atrofie, dun corpus callosum, en hypomyelinisatie."},"pt":{"name":"Síndrome de microcefalia-perturbação do desenvolvimento intelectual-perda auditiva neurossensorial-epilepsia-anomalias do tónus muscular","synonyms":["Síndrome de microcefalia-perturbação do desenvolvimento intelectual-surdez neurossensorial-epilepsia-anomalias do tónus muscular"]},"pl":{"name":"Zespół małogłowia, niepełnosprawności intelektualnej, czuciowo-nerwowej utraty słuchu, padaczki i nieprawidłowego napięcia mięśniowego","synonyms":["Zespół małogłowia, niepełnosprawności intelektualnej, głuchoty czuciowo-nerwowej, padaczki i nieprawidłowego napięcia mięśniowego"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální ztrátu sluchu, epilepsii a abnormální svalový tonus","synonyms":["Syndrom zahrnující mikrocefalii, mentální retardaci, senzorineurální hluchotu, epilepsii a abnormální svalový tonus"]},"uk":{"name":"Синдром мікроцефалії-інтелектуальної недостатності-сенсоневральної приглухуватості-епілепсії- порушення мязового тонусу","synonyms":["Синдром мікроцефалії-інтелектуальної недостатності-сенсоневральної глухоти-епілепсії- порушення мязового тонусу"],"definition":"A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination."},"zh":{"name":"小头畸形-智力障碍-感音性听力障碍-癫痫-肌张力异常综合征","synonyms":["小头畸形-智力障碍-感音神经性耳聋-癫痫-异常肌张力综合征"]},"tr":{"name":"Mikrosefali-zihinsel yetersizlik-sensörinöral işitme kaybı-epilepsi-anormal kas tonusu sendromu","synonyms":["Mikrosefali-zihinsel yetersizlik-sensörinöral sağırlık-epilepsi-anormal kas tonusu sendromu"]}},"xrefs":[{"source":"OMIM","code":"616577","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AFG2A","name":"AAA ATPase AFG2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26299366[PMID]","hgnc":"18119","ensembl":"ENSG00000145375","omim":"613940","loci":["4q28.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"26299366[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26299366[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-12","source":"27683084[PMID]_26299366[PMID]_27246907[PMID]","terms":[{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011352","label":"Severe receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011290","label":"EEG with frontal sharp slow waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010838","label":"High nonceruloplasmin-bound serum copper","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020049","label":"Exodeviation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004532","label":"Sacral hypertrichosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Very rare (<4-1%)","criteria":null}]}}