{"orpha":477814,"name":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477814/","orphanet_url":"https://www.orpha.net/en/disease/detail/477814","names":{"fr":{"name":"Syndrome de microcéphalie progressive-épilepsie-cécité corticale-retard de développement","definition":"Un syndrome génétique neuro-ophtalmologique rare caractérisé par une microcéphalie progressive post-natale et des convulsions précoces associées à un retard du développement global, un atteinte visuelle corticale bilatérale et un déficit intellectuel modéré à sévère. Les signes additionnels incluent une petite taille, une hypotonie généralisée et des complications pulmonaires, telles que des infections respiratoires récurrentes et une bronchiectasie. Les examens métaboliques et auditifs sont normaux."},"de":{"name":"Progressive Mikrozephalie-Krämpfe-Kortikale Blindheit-Entwicklungsverzögerung-Syndrom","definition":"Ein seltenes, genetisches, neuro-ophthalmologisches Syndrom, das durch postnatale, progressive Mikrozephalie und früh einsetzende Anfälle gekennzeichnet ist und mit einer verzögerten globalen Entwicklung, einer bilateralen kortikalen Sehbehinderung und einer mäßigen bis schweren Intelligenzminderung einhergeht. Weitere Manifestationen sind Kleinwuchs, generalisierte Hypotonie und pulmonale Komplikationen, wie rezidivierende Atemwegsinfektionen und Bronchiektasen. Auditorische und metabolische Untersuchungen sind normal."},"es":{"name":"Síndrome de microcefalia progresiva-crisis-ceguera cortical-retraso del desarrollo","definition":"Es un síndrome neuro-oftalmológico genético poco frecuente caracterizado por microcefalia post-natal progresiva y convulsiones de inicio temprano, asociado a retraso global del desarrollo, deterioro visual cortical bilateral y discapacidad intelectual de moderada a grave. Otras manifestaciones incluyen talla baja, hipotonía generalizada y complicaciones pulmonares, tales como infecciones respiratorias recurrentes y bronquiectasias. Las pruebas de cribado auditivo y metabólico son normales."},"it":{"name":"Sindrome da microcefalia progressiva - crisi epilettiche - cecità corticale - ritardo dello sviluppo","definition":"La sindrome da microcefalia progressiva, crisi epilettiche, cecità corticale e ritardo dello sviluppo è una malattia neuro-oftalmologica genetica rara, caratterizzata da microcefalia progressiva post-natale e crisi epilettiche ad esordio precoce, associate a ritardo dello sviluppo globale, cecità corticale bilaterale e disabilità intellettiva moderata o grave. Altri segni clinici sono la bassa statura, l'ipotonia generalizzata e le complicanze polmonari, come le infezioni respiratorie ricorrenti e le bronchiectasie. Gli esiti degli screening metabolici e dell'udito sono normali."},"nl":{"name":"Progressieve microcefalie - insulten - corticale blindheid - ontwikkelingsachterstand-syndroom","definition":"Progressieve microcefalie - insulten - corticale blindheid - ontwikkelingsachterstand-syndroom is een zeldzaam, genetisch, neuro-oftalmologisch syndroom, gekarakteriseerd door postnatale, progressieve microcefalie en vroeg aanvangende insulten, geassocieerd met algehele ontwikkelingsachterstand, bilaterale corticale visuele stoornis en matige tot ernstige intellectuele achterstand. Bijkomende manifestaties zijn onder meer een kleine gestalte, gegeneraliseerde hypotonie en pulmonale complicaties, zoals terugkerende infecties van luchtwegen en bronchiëctasie. Auditieve en metabole onderzoeken zijn normaal."},"pt":{"name":"Síndrome de microcefalia progressiva-convulsões-cegueira cortical-perturbação do desenvolvimento"},"pl":{"name":"Zespół postępującego małogłowia, napadów padaczkowych, ślepoty korowej i opóźnienia w rozwoju"},"cs":{"name":"Syndrom zahrnující progresivní mikrocefalii, křeče, korovou slepotu a vývojové opoždění"},"uk":{"name":"Синдром прогресуючої мікроцефалії-судом-коркової сліпоти-затримки розвитку","definition":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal."},"zh":{"name":"进行性小头畸形-癫痫-皮质盲-发育迟缓综合征","definition":"进行性小脑萎缩-癫痫发作-皮质盲-发育迟缓综合征是一种罕见的遗传性神经眼科综合征，其特征是出生后进行性小脑萎缩和早发性癫痫发作，伴有全面发育迟缓、双侧皮质视觉障碍和中度至重度智力障碍。其他表现包括身材矮小、全身肌张力低下和肺部并发症，如反复呼吸道感染和支气管炎。听觉和代谢检查正常。"},"tr":{"name":"İlerleyici mikrosefali-nöbetler-kortikal körlük-gelişme geriliği sendromu"}},"xrefs":[{"source":"OMIM","code":"616632","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567650","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DIAPH1","name":"diaphanous related formin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24781755[PMID]_2643574[PMID]","hgnc":"2876","ensembl":"ENSG00000131504","omim":"602121","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24781755[PMID]_26463574[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24781755[PMID]_26463574[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"36212620[PMID]_33662367[PMID]_26463574[PMID]","terms":[{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012191","label":"B-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005387","label":"Combined immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034311","label":"Hypoplastic optic chiasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011330","label":"Metopic synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033725","label":"Thin corpus callosum","frequency":"Occasional (29-5%)","criteria":null}]}}