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Cerebellar hypoplasia

DA: 202

Developmental anomaly information

Definition: Type IV of Chiari malformation (CM lV) is a rare form of CM in which the cerebellum is incomplete or underdeveloped (cerebellar hypoplasia). In patients with CM type IV, the cerebellum may extend farther down into the spinal canal, parts of the cerebellum may be missing, and portions of the skull and/or spinal cord may be visible. This form of CM is typically fatal during infancy. Cerebellar hypoplasia may be genetic or occur sporadically.


  • Cerebellar hypogenesis
  • Type IV of Chiari malformation (CM lV)
  • Cerebral atrophy

Developmental anomaly parent: Arnold-Chiari Type II malformation (CM II)

Topology: Human body > Head and neck > Head > Cranium > Cerebellum

System: Human body > Nervous system > Central nervous system > Cerebellum

Developmental anomaly category: Anomaly of underdevelopment or overdevelopment

Case records MDB15, MDB181, MDB290, MDB291, MDB309, MDB60, MDB416, MDB329, MDB288, MDB310, MDB315, MDB340, MDB392, MDB442, MDB455, MDB490
Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
  • () in case MDB
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2010-10-30 18:27:36 by jcfournet

Created: 2008-05-13 02:00:00 by phsaw

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