{"orpha":50810,"name":"Microlissencephaly-micromelia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Basel-Vanagaite-Sirota syndrome"],"definition":"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50810/","orphanet_url":"https://www.orpha.net/en/disease/detail/50810","names":{"fr":{"name":"Syndrome de microlissencéphalie-micromélie","synonyms":["Syndrome de Basel-Vanagaite-Sirota"],"definition":"Un syndrome de développement cortical anormal caractérisé par un polyhydramnios prénatal sévère, une microcéphalie post-natale, une lissencéphalie, une micromélie des membres supérieurs, une dysmorphie faciale (visage grossier, hypertrichose, petit nez avec un long philtrum) et des convulsions intraitables. Le syndrome est fatal précocement. Une hypoparathyroïdie a été relevée dans un cas."},"de":{"name":"Mikrolissenzephalie-Mikromelie-Syndrom","synonyms":["Basel-Vanagaite-Sirota-Syndrom"]},"es":{"name":"Síndrome de microlisencefalia-micromelia","synonyms":["Síndrome de Basel-Vanagaite-Marcus-Klinger"],"definition":"El síndrome de microlisencefalia-micromelia es un síndrome de desarrollo cortical anormal, caracterizado por polihidramnios prenatal grave, microcefalia postnatal, lisencefalia, micromelia de las extremidades superiores, facies dismórfica (cara tosca, hipertricosis, y nariz corta con un surco nasolabial largo), convulsiones no tratables, y muerte temprana. En un caso se observó hipoparatiroidismo."},"it":{"name":"Microlissencefalia - micromelia","synonyms":["Sindrome di Basel-Vanagaite-Sirota"],"definition":"La microlissencefalia-micromelia è una sindrome da difetti di sviluppo della corteccia cerebrale, caratterizzata da grave polidramnios e segni postnatali, come la microcefalia, la lissencefalia, la micromelia degli arti superiori, i dimorfismi facciali (lineamenti grossolani del viso, ipertricosi, naso corto con filtro lungo), crisi epilettiche non trattabili e morte prematura. In un caso è stato osservato ipoparatiroidismo."},"nl":{"name":"Microlissencefalie - micromelie-syndroom","synonyms":["Syndroom van Basel-Vanagaite-Sirota"],"definition":"Microlissencefalie - micromelie-syndroom is een syndroom met abnormale corticale ontwikkeling dat gekarakteriseerd wordt door ernstig prenataal polyhydramnion, postnatale microcefalie, lissencefalie, micromelie van de bovenste ledematen, dysmorf gelaat (grof gezicht, hypertrichose, en korte neus met lang filtrum), onbehandelbare insulten, en vroegtijdig overlijden. In één geval werd hypoparathyreoïdie opgemerkt."},"pt":{"name":"Síndrome de microlisencefalia-micromelia","synonyms":["Síndrome Basel-Vanagaite-Sirota"]},"pl":{"name":"Mikrolizencefalia - mikromelia","synonyms":["Zespół Basela, Vanagaite i Sirota"]},"cs":{"name":"Syndrom zahrnující mikrolissencefalii a mikromelii","synonyms":["Basel-Vanagaiteové-Sirotové syndrom","Basel-Vanagaite-Sirotové syndrom"]},"uk":{"name":"Синдром мікролісенцефалії-мікромелії","synonyms":["Синдром Базеля-Ванагайта-Сіроти"],"definition":"Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case."},"zh":{"name":"小脑无脑回畸形伴短肢畸形综合征","synonyms":["Basel-Vanagaite-Sirota综合征"]},"tr":{"name":"Mikrolizensefali-mikromeli sendromu","synonyms":["Basel-Vanagaite-Sirota sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"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":[],"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":"12749064[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12749064[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12923870[PMID]","terms":[{"hpo":"HP:0000878","label":"11 pairs of ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null}]}}