Living with Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
A rare genetic brain-formation syndrome with a very small head, delayed movement skills, and low muscle tone.
Understanding Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
People have a very small head that begins before birth, severe delays in motor skills, and low muscle tone (hypotonia). Brain scans show extra small folds on the brain surface (polymicrogyria), a missing corpus callosum (the bridge between the two halves of the brain), enlarged fluid spaces, and a small cerebellum. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head from birth (primary microcephaly)
- Missing corpus callosum
- Extra small folds on the brain surface (polymicrogyria)
- Small cerebellum (cerebellar hypoplasia)
- Enlarged fluid spaces in the brain (ventriculomegaly)
- Breathing difficulties and repeated infections
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 EOMES 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 rare disease patient organizations for support
- 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
This condition is caused by changes in the EOMES gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcephaly, polymicrogyria, corpus callosum agenesis syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly-polymicrogyria-corpus callosum agenesis syndrome.
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