LD20.1
Syndromes with lissencephaly as a major feature
Síndromes com lissencefalia como uma característica importante
CategoryDefinition
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly.
Inclusions
- Agyria
- Pachygyria
Index Terms
Syndromes with lissencephaly as a major featurePachygyriaAgyriaClassic lissencephalyLissencephaly type 1Lissencephaly type 1 due to doublecortin gene mutationSubcortical band heterotopiaMiller-Dieker syndromeLissencephaly due to 17p13.3 deletion17p13.3 microdeletion syndromeTelomeric deletion 17pMonosomy 17p13.317p13.3 deletionLissencephaly type 1 due to LIS1 gene mutationIsolated lissencephaly type 1 without known genetic defectsLissencephaly type 2Lissencephaly type 3Neu-Laxova syndromeLissencephaly type 3 - familial fetal akinesia sequenceLissencephaly type 3 - metacarpal bone dysplasiaLissencephaly with cerebellar hypoplasiaLissencephaly with cerebellar hypoplasia type ALissencephaly with cerebellar hypoplasia type BLissencephaly with cerebellar hypoplasia type CLissencephaly with cerebellar hypoplasia type DLissencephaly with cerebellar hypoplasia type ELissencephaly with cerebellar hypoplasia type FMicrolissencephalyMicrolissencephaly type ALissencephaly syndrome, Norman-Roberts typeMicrolissencephaly type BLissencephaly due to TUBA1A gene mutationX-linked lissencephaly - agenesis of corpus callosum - genital anomaliesCraniotelencephalic dysplasiaMicro syndromeWarburg Micro syndromeWARBM1 - [Warburg Micro syndrome]Iris coloboma with ptosis - intellectual deficit