Aprosencephaly cerebellar dysgenesis
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| Aprosencephaly cerebellar dysgenesis | |
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| Other names | Aprosencephaly and cerebellar dysgenesis |
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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.[1][2]
Features of this condition include:[1]
- Forked uvula
- Clubfoot
- Retinal dysplasia
- Premature skull fusion in infants
- Micrognathia
- Absent mesencephalon
- Aprosencephaly
- Cerebellar dysplasia
- Poorly formed metencephalon
Malformations extending to the hands and feet have also been described.