Living with Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
A rare genetic syndrome with a missing brain bridge, a large head, wide-set eyes, and mild intellectual disability.
Understanding Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
The corpus callosum is the band of nerve fibers linking the two sides of the brain. People have borderline or mild intellectual disability and facial features such as a broad forehead. A Chiari type I malformation, a brain-base difference, has also been reported. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing corpus callosum (agenesis)
- Large head (macrocephaly)
- Wide-set eyes (hypertelorism)
- Broad forehead
- Mild intellectual disability
- Chiari type I malformation
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
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: 7q36.3 microduplication syndrome; agenesis of corpus callosum, macrocephaly, hypertelorism syndrome; dup(7)(q36.3)
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 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome.
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