Living with Corpus callosum agenesis-abnormal genitalia syndrome
A rare genetic brain condition with severe intellectual disability, seizures, and a missing brain bridge, mostly in males.
Understanding Corpus callosum agenesis-abnormal genitalia syndrome
The corpus callosum, the band of nerve fibers linking the two sides of the brain, does not form. It usually occurs in males. When it occurs in females, the signs and symptoms are often milder. 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)
- Severe intellectual disability
- Seizures
- Muscle stiffness (spasticity)
- Small head (microcephaly)
- Short stature
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, genetic specialists, seizure and epilepsy specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in ARX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist); Urinary and male reproductive system specialists (urologists)
- 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 Simons Searchlight and other patient organizations
- 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 ARX gene. It is X-linked recessive. This means the gene is on the X chromosome, and it mostly affects males.
Also known as: acc with abnormal genitalia; acc-abnormal genitalia syndrome; agenesis of corpus callosum and abnormal genitalia syndrome; agenesis of corpus callosum with abnormal genitalia; corpus callosum agenesis, abnormal genitalia syndrome; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Patient organizations
- Simons SearchlightCorpus callosum agenesis-abnormal genitalia syndrome · United States
- National Organization of Disorders of the Corpus CallosumCorpus callosum agenesis-abnormal genitalia syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Corpus callosum agenesis-abnormal genitalia syndrome.
Explore research for Corpus callosum agenesis-abnormal genitalia syndrome
Explore actively recruiting Corpus callosum agenesis-abnormal genitalia syndrome studies with HealthSpark.
Find actively recruiting studies for Corpus callosum agenesis-abnormal genitalia syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Corpus callosum agenesis-abnormal genitalia syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Corpus callosum agenesis-abnormal genitalia syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Corpus callosum agenesis-abnormal genitalia syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.