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LD20.1 category

Syndromes with lissencephaly as a major feature

Definition

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

Also indexed as

17p13.3 deletion17p13.3 microdeletion syndromeAgyriaClassic lissencephalyCraniotelencephalic dysplasiaIris coloboma with ptosis - intellectual deficitIsolated lissencephaly type 1 without known genetic defectsLissencephaly due to 17p13.3 deletionLissencephaly due to TUBA1A gene mutationLissencephaly syndrome, Norman-Roberts typeLissencephaly type 1Lissencephaly type 1 due to LIS1 gene mutationLissencephaly type 1 due to doublecortin gene mutationLissencephaly type 2Lissencephaly type 3Lissencephaly 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 FMicro syndromeMicrolissencephalyMicrolissencephaly type AMicrolissencephaly type BMiller-Dieker syndromeMonosomy 17p13.3Neu-Laxova syndromePachygyriaSubcortical band heterotopiaSyndromes with lissencephaly as a major featureTelomeric deletion 17pWARBM1 - [Warburg Micro syndrome]Warburg Micro syndromeX-linked lissencephaly - agenesis of corpus callosum - genital anomalies

Nearby in Syndromes with central nervous system anomalies as a major feature