Aprosencephaly cerebellar dysgenesis
| Aprosencephaly cerebellar dysgenesis | |
|---|---|
| Other names | Aprosencephaly and cerebellar dysgenesis |
 | |
Aprosencephaly cerebellar dysgenesis is a rare, non-syndromic
Signs and symptoms
Features of this condition include:[1]
- 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
autosomal recessive.[2]
History
The condition was first described in 1996.[2]
References
- ^ a b "Aprosencephaly cerebellar dysgenesis (Concept Id: C1832412)". www.ncbi.nlm.nih.gov. Retrieved 2023-10-07.
- ^ a b c "Entry - 601374 - APROSENCEPHALY AND CEREBELLAR DYSGENESIS - OMIM". www.omim.org. Retrieved 2023-10-07.