Lissencephaly type 3-metacarpal bone dysplasia syndrome

This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.

Also known as: lissencephaly type 3 and bone dysplasia, lissencephaly type III and bone dysplasia

0 clinical trials for this condition and its sub-types, 0 tagged with Lissencephaly type 3-metacarpal bone dysplasia syndrome itself.