Living with Acrocallosal syndrome
A rare condition present at birth with a brain difference, extra fingers or toes, delayed development, and distinct facial features.
Understanding Acrocallosal syndrome
The corpus callosum is the tissue that connects the two halves of the brain. These brain changes lead to delayed development and intellectual disability, most often moderate to severe, and some people have seizures. Extra fingers and toes are common, and some have webbed fingers or toes. Facial features can include widely spaced eyes, a high prominent forehead, and a large head. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped corpus callosum
- Severe intellectual disability
- Extra fingers or toes (polydactyly)
- Larger head size (macrocephaly)
- Wide-set eyes (hypertelorism)
- Dandy-Walker brain 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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in KIF7 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial 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 National Organization of Disorders of the Corpus Callosum 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
Changes in the KIF7 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly; acls; acs; hallux duplication, postaxial polydactyly, and absence of corpus callosum; kif7-related joubert syndrome; schinzel acrocallosal syndrome
Patient organizations
- National Organization of Disorders of the Corpus CallosumAcrocallosal syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Acrocallosal syndrome.
Explore research for Acrocallosal syndrome
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