Living with Complex cortical dysplasia with other brain malformations 7
A rare genetic brain condition with differences in the brain's outer layer, causing a small head, seizures and developmental delay.
Understanding Complex cortical dysplasia with other brain malformations 7
The brain may have extra small folds or be unusually small and smooth, along with differences in the corpus callosum. Features vary and include small head size, seizures, low muscle tone, developmental delay, balance problems, stiffness or weakness in the limbs, and eye differences. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Global developmental delay
- Intellectual disability
- Extra brain folds (polymicrogyria)
- Weakness on one side of the body (hemiparesis)
- Seizures and low muscle tone
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 and genetic specialists.
- 3Consider genetic testing
Changes in TUBB2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Child Neurology 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
Changes in the TUBB2B gene are listed. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: cdcbm7; complex cortical dysplasia with other brain malformations caused by mutation in tubb2b; complex cortical dysplasia with other brain malformations type 7; polymicrogyria due to tubb2b mutation; tubb2b complex cortical dysplasia with other brain malformations
Patient organizations
- Child Neurology FoundationComplex cortical dysplasia with other brain malformations 7 · United States
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