Living with Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
A rare genetic brain condition from birth with a small head, severe intellectual disability, balance problems, and distinct facial features.
Understanding Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Babies are born with a small head, severe intellectual disability, and stiff muscles that ease with age. They have poor balance and coordination (ataxia). Facial features include thick arched eyebrows, long eyelashes, and low-set ears. Brain imaging shows partial to almost complete absence of the corpus callosum and differences in the cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Severe intellectual disability
- Absent speech
- Increased muscle tone (hypertonia)
- Brain differences (absent corpus callosum)
- Slow growth
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.
- 3Consider genetic testing
Changes in FRMD4A 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); 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 National Organization of Disorders of the Corpus Callosum
- 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 FRMD4A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: birk-flusser syndrome; ccafca; corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia; severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
Patient organizations
- National Organization of Disorders of the Corpus CallosumSevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome.
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