Living with Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
A rare genetic syndrome with a small head, a small cerebellum, slow growth, developmental delay, and a heart rhythm problem.
Understanding Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
GARD describes growth problems, delayed development, profound intellectual disability, and autistic behaviors. Some people develop a slowed heart rate with a partial heart block (a problem with the heart's electrical signals). Brain scans show a small cerebellum, the part of the brain that helps with balance. Low muscle tone and unusual movements can also occur. Signs begin in the newborn period or infancy.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Smaller-than-average head size (microcephaly)
- Slow growth
- Delays in reaching developmental milestones
- Profound intellectual disability
- Slowed heart rate with heart block (bradycardia)
- Low muscle tone (hypotonia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
Changes in genes (also called variants) cause this syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome; microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome; microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome; microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome; zaki gleeson syndrome; zaki-gleeson 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-cerebellar hypoplasia-cardiac conduction defect syndrome.
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