Aprosencephaly cerebellar dysgenesis

Aprosencephaly cerebellar dysgenesis
Other names	Aprosencephaly and cerebellar dysgenesis

Aprosencephaly cerebellar dysgenesis is a rare, non-syndromic central nervous system malformation characterized by the absence of the telencephalon and diencephalic structures. These are often combined with severe abnormalities in the mesencephalon and cerebellum.

Signs and symptoms

Features of this condition include:

• Bifid uvula
• Talipes equinovarus
• Retinal dysplasia
• Craniosynostosis
• Micrognathia
• Absent mesencephalon
• Aprosencephaly
• Cerebellar dysplasia
• Poorly formed metencephalon

Malformations extending to the hands and feet have also been described.

Causes

This condition is genetic, but its origins are unclear. The symptoms presented suggested OTX2 expression, but testing found no variation of OTX2 in patients. This condition is believed to be autosomal recessive.

History

The condition was first described in 1996.