Living with Lissencephaly type 3-familial fetal akinesia sequence syndrome
A rare inherited condition with a small head, missing brain connections, and no fetal movement, noticed during pregnancy.
Understanding Lissencephaly type 3-familial fetal akinesia sequence syndrome
Features are a small head (microencephaly), a missing corpus callosum (the band joining the brain halves), a small brainstem, and a cystic cerebellum, along with fetal akinesia sequence. GARD says it may be a variant of Neu-Laxova syndrome. It is noticed during pregnancy.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Small head (microencephaly)
- Missing corpus callosum
- Small brainstem
- Cystic cerebellum
- Lack of fetal movement (akinesia)
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 and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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)
- 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 Child Neurology Foundation 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 passed on in an autosomal recessive way, which means a child inherits a changed copy of the gene from each parent. GARD does not name a gene.
Also known as: lissencephaly type 3 familial fetal akinesia sequence syndrome
Patient organizations
- Child Neurology FoundationLissencephaly type 3-familial fetal akinesia sequence syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly type 3-familial fetal akinesia sequence syndrome.
Explore research for Lissencephaly type 3-familial fetal akinesia sequence syndrome
Explore actively recruiting Lissencephaly type 3-familial fetal akinesia sequence syndrome studies with HealthSpark.
Find actively recruiting studies for Lissencephaly type 3-familial fetal akinesia sequence 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 Lissencephaly type 3-familial fetal akinesia sequence 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 Lissencephaly type 3-familial fetal akinesia sequence 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 Lissencephaly type 3-familial fetal akinesia sequence 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.