Catalog
Syndromes with lissencephaly as a major feature
Link to WHO Definition
Syndromes with lissencephaly as a major feature – http://id.who.int/icd/entity/805385297
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.
Parents
Children
- Lissencephaly due to TUBA1A gene mutation
- Lissencephaly type 2
- Lissencephaly type 3
- Craniotelencephalic dysplasia
- Microlissencephaly
- Micro syndrome
- Iris coloboma with ptosis - intellectual deficit
- Classic lissencephaly
- Lissencephaly with cerebellar hypoplasia
- X-linked lissencephaly - agenesis of corpus callosum - genital anomalies