UCL Queen Square Institute of Neurology


Cerebellar hypoplasia

Cerebellar Agenesis
Cerebellar Aplasia
Cerebellar Hemiagenesis

Extract from the National Organization for Rare Disorders, Inc.
Cerebellar agenesis is a rare disorder thought to be inherited as an autosomal recessive trait. Infants with this disorder are born with partial formation or total absence of the portion of the brain that is located at the base of the skull and known as the cerebellum. Infants with partial formation of the cerebellum may have few or no symptoms of the disorder. When total absence of the cerebellum is present, an affected infant may experience low muscle tone, uncontrollable quivering or movements, involuntary movement of the eyes, and/or an inability to coordinate muscle movements.

Cerebellar hypoplasia: factsheet from NINDS, the National Institute of Neurological Disorders and Stroke (US site)

Cerebellar agenesis: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Cerebellar hypoplasia.

Support Groups

Contact A Family (CAF)
Has information on over 1,000 rare syndromes and rare disorders and can put families in touch with each other. Also gives access to a database on rare conditions and disorders.

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Healthtalk: nerves and brain
Personal experiences of people living with various neurological conditions.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.