LD20.1 Syndromes with lissencephaly as a major feature

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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

synonyms

• Syndromes with lissencephaly as a major feature
• Pachygyria
• Agyria
• Classic lissencephaly
• Lissencephaly type 1
• Lissencephaly type 1 due to doublecortin gene mutation
• Subcortical band heterotopia
• Miller-Dieker syndrome
• Lissencephaly due to 17p13.3 deletion
• 17p13.3 microdeletion syndrome
• Telomeric deletion 17p
• Monosomy 17p13.3
• 17p13.3 deletion
• Lissencephaly type 1 due to LIS1 gene mutation
• Isolated lissencephaly type 1 without known genetic defects
• Lissencephaly type 2
• Lissencephaly type 3
• Neu-Laxova syndrome
• Lissencephaly type 3 - familial fetal akinesia sequence
• Lissencephaly type 3 - metacarpal bone dysplasia
• Lissencephaly with cerebellar hypoplasia
• Lissencephaly with cerebellar hypoplasia type A
• Lissencephaly with cerebellar hypoplasia type B
• Lissencephaly with cerebellar hypoplasia type C
• Lissencephaly with cerebellar hypoplasia type D
• Lissencephaly with cerebellar hypoplasia type E
• Lissencephaly with cerebellar hypoplasia type F
• Microlissencephaly
• Microlissencephaly type A
• Lissencephaly syndrome, Norman-Roberts type
• Microlissencephaly type B
• Lissencephaly due to TUBA1A gene mutation
• X-linked lissencephaly - agenesis of corpus callosum - genital anomalies
• Craniotelencephalic dysplasia
• Micro syndrome
• Warburg Micro syndrome
• WARBM1 - [Warburg Micro syndrome]
• Iris coloboma with ptosis - intellectual deficit

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