{"orpha":86822,"name":"Lissencephaly type 3-metacarpal bone dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86822/","orphanet_url":"https://www.orpha.net/en/disease/detail/86822","names":{"fr":{"name":"Syndrome de lissencéphalie type 3-dysplasie métacarpienne","definition":"Syndrome caractérisé par une microcéphalie sévère, une agyrie, une agénésie du corps calleux, une hypoplasie cérébelleuse, une dysmorphie faciale et des épiphyses métacarpiennes ponctuées. De transmission autosomique récessive, ce syndrome pourrait être un variant allélique du syndrome de Neu-Laxova et de la lissencéphalie de type III avec dilatations kystiques du cervelet et akinésie foetale."},"de":{"name":"Lissenzephalie Typ 3-metakarpale Knochendysplasie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch schwere Mikrozephalie, Agyrie, Agenesie des Corpus callosum, Kleinhirn-Hypoplasie, faziale Dysmorphien und getüpfelte Epiphysen der Metacarpalia. Es wurde bei 2 Brüdern beschrieben. Das Syndrom wird evtl. autosomal-rezessiv vererbt. Es könnte sich um eine allelische Variante des Neu-Laxova-Syndroms und der Lissenzephalie Typ III mit zystischer Erweiterung des Kleinhirns und fetaler Akinesie-Sequenz handeln."},"es":{"name":"Síndrome de lisencefalia tipo 3-displasia ósea metacarpiana","definition":"Es una forma sindrómica poco frecuente de lisencefalia caracterizada por microcefalia grave agiria, agenesia del cuerpo calloso, hipoplasia cerebelosa, dismorfia facial y punteado epifisario de los huesos metacarpianos. El síndrome puede ser una variante alélica del síndrome de Neu-Laxova y lisencefalia tipo III con dilataciones quísticas del cerebelo y secuencia de acinesia fetal."},"it":{"name":"Lissencefalia tipo 3 - displasia delle ossa metacarpali"},"nl":{"name":"Lissencefalie type 3 - dysplasie van metacarpus-syndroom","definition":"Een syndroom, gekenmerkt door ernstige microcefalie, agyrie, agenesie van corpus callosum, cerebellaire hypoplasie, faciale dysmorfie, en epifysaire stippeling van metacarpalen. Het werd beschreven bij twee broers. Het syndroom wordt overgedragen als een autosomaal recessief kenmerk, en is mogelijk een allelische variant van syndroom van Neu-Laxova en lissencefalie type III met cystische dilatatie van cerebellum en foetale akinesie-sequentie."},"pt":{"name":"Síndrome de lisencefalia tipo 3-displasia óssea dos metacarpos"},"pl":{"name":"Lizencefalia typu 3 - dysplazja kości śródręcza"},"cs":{"name":"Syndrom zahrnující lissencefalii typu 3 a dysplázii metakarpálních kostí"},"uk":{"name":"Синдром лісенцефалії 3-го типу з ураженням 3-х пʼясткових кісток","definition":"A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence."},"zh":{"name":"无脑回畸形3型-掌骨发育不良综合征"},"tr":{"name":"Lizensefali tip 3-metakarpal kemik displazisi sendromu"}},"xrefs":[{"source":"OMIM","code":"601160","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"807545724"},{"source":"MONDO","code":"0011004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102011,"name":"Lissencephaly type 3","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11170088[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11170088[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-25","source":"11170088[PMID]_11170088[PMID]","terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008178","label":"Abnormal cartilage matrix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003405","label":"Diffuse axonal swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007190","label":"Neuronal loss in the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null}]}}