Living with Complex cortical dysplasia with other brain malformations 1
A rare genetic brain condition where brain cells did not move to the right place, causing developmental delay and eye movement problems.
Understanding Complex cortical dysplasia with other brain malformations 1
Brain cells do not move to the right place as the brain develops. The cortex (outer brain layer) and the part of the brain that controls balance and coordination do not form properly. This can cause developmental delay, intellectual disability and low muscle tone in the trunk. Eye problems are also common. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Seizures
- Delayed sitting and walking
- Eyes that do not line up (strabismus) and shaky eye movements
- Feeding difficulties in infancy
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TUBB3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TUBB3 gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: cdcbm1; complex cortical dysplasia with other brain malformations caused by mutation in tubb3; complex cortical dysplasia with other brain malformations type 1; cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation; cortical dysplasia, complex, with other brain malformations type 1; tubb3 complex cortical dysplasia with other brain malformations
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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