Living with Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
A rare genetic syndrome with a missing brain bridge, eye gaps, a small jaw, and intellectual disability.
Understanding Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
It includes gaps (coloboma) in the iris and optic nerve, facial differences like a high forehead and small, set-back jaw, and intellectual disability. The corpus callosum, the band linking the two sides of the brain, is missing. People may also have hearing loss from the inner ear, bone differences, and short stature. 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)
- Intellectual disability
- Eye gaps (coloboma)
- Hearing loss
- Cleft palate
- Heart differences, such as a hole between lower chambers
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in IGBP1 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); Eye disease specialists (ophthalmologists); 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
It is caused by changes in the IGBP1 gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia; corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, x-linked recessive; corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia; corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia; graham-cox syndrome; intellectual disability, x-linked, syndromic 28
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-intellectual disability-coloboma-micrognathia syndrome.
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