Living with Microlissencephaly-micromelia syndrome
A rare genetic syndrome affecting brain development, with a small head, short upper arms, seizures, and extra amniotic fluid before birth.
Understanding Microlissencephaly-micromelia syndrome
Features include a lot of extra amniotic fluid during pregnancy (polyhydramnios), a head that is small after birth, a smooth brain surface (lissencephaly), and short upper limbs (micromelia). Other features include coarse facial features, extra body hair, and seizures that are hard to treat. Low parathyroid hormone has also been reported. Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smooth brain surface (lissencephaly)
- Small head after birth (secondary microcephaly)
- Seizures
- Delays in reaching developmental milestones
- Breathing difficulties
- Low parathyroid hormone (hypoparathyroidism)
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 Epilepsy Foundation
- 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 genes (also called variants) cause this syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: basel vanagaite sirota syndrome; basel-vanagaite-sirota syndrome; microlissencephaly micromelia syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Microlissencephaly-micromelia syndrome.
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