Syndromes with lissencephaly as a major feature (Q46018): Difference between revisions
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O termo lissencefalia abrange um grupo de malformações raras que compartilham a característica comum de anomalias no aparecimento de circunvoluções cerebrais (caracterizadas por simplificação ou ausência de dobramento) associadas à organização anormal das camadas corticais como resultado de defeitos de migração neuronal durante a embriogênese. Crianças com lissencefalia apresentam problemas de alimentação e deglutição, anomalias do tônus muscular (hipotonia precoce e subsequentemente hipertonia de membros), convulsões (especialmente espasmos infantis) e retardo psicomotor grave. Dois grandes grupos podem ser distinguidos: lissencefalia clássica (e suas variantes) e lissencefalia em pedra de calçada. | |||
| description / en | description / en | ||
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. | |||
Revision as of 14:19, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD20.1 |
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| English | Syndromes with lissencephaly as a major feature |
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. |
