Syndromes with lissencephaly as a major feature (Q46018): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/805385297
@@ Property / Canonical URI: https://id.who.int/icd/entity/805385297 / rank @@
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@@ Property / CURIE @@
+CID11:LD20.1
@@ Property / CURIE: CID11:LD20.1 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-LD20.1
@@ Property / Canary Token: dki-india-LD20.1 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
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@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+Q04.3
@@ Property / Linked ICD 10: Q04.3 / rank @@
+Normal rank

Latest 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
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.