Living with Microcephaly, seizures, and developmental delay
A genetic condition with a small head, seizures that start in infancy, and delays in movement and speech.
Understanding Microcephaly, seizures, and developmental delay
People with MCSZ usually have repeated seizures (epilepsy) that start in infancy. Skills like sitting and walking come later than usual. Speech is also delayed, and some people never speak. Intellectual disability and behavior concerns, mostly hyperactivity, are common. Rarely, people have poor balance and coordination (ataxia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Seizures
- Delays in reaching developmental milestones
- More active than typical (hyperactivity)
- Poor balance and coordination (ataxia)
- Shrinking of the cerebellum (cerebellar atrophy)
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 seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- 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
GARD lists this condition as autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene in this record.
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
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly, seizures, and developmental delay.
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