Overview
Microlissencephaly-micromelia syndrome is an extremely rare and severe brain development disorder that is present from birth. The name describes its two main features: 'microlissencephaly' means the brain is both unusually small (microcephaly) and has a smooth surface instead of the normal folds and grooves (lissencephaly), and 'micromelia' means the arms and legs are abnormally short. Together, these features point to a problem that affects how the brain and limbs grow during pregnancy. The condition is also sometimes referred to simply as microlissencephaly with micromelia. Babies born with this syndrome typically have a very small head, a smooth brain with little or no folding, and shortened limbs. The brain abnormalities lead to profound intellectual disability, very limited or absent voluntary movement, and often severe seizures. Most affected infants also have feeding difficulties and may need breathing support. The condition is thought to be genetic in origin, though the exact gene or genes responsible have not been fully confirmed in all reported cases. There is currently no cure for microlissencephaly-micromelia syndrome. Care focuses on managing symptoms, keeping the child comfortable, preventing complications like aspiration pneumonia, and supporting the family. The prognosis is very serious, and most affected children do not survive beyond early infancy or childhood. Families benefit greatly from palliative care teams, genetic counseling, and strong support networks.
Also known as:
Key symptoms:
Abnormally small head size (microcephaly)Smooth brain surface with absent or reduced folding (lissencephaly)Unusually short arms and legs (micromelia)Profound intellectual disabilityLittle or no voluntary movementSevere seizuresFeeding difficulties and poor sucking reflexBreathing problems requiring supportVery low muscle tone (hypotonia)Absent or very limited response to surroundingsAbnormal facial featuresFailure to reach developmental milestones
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microlissencephaly-micromelia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microlissencephaly-micromelia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microlissencephaly-micromelia syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to find the cause, and what could the results mean for future pregnancies?,What seizure medications are most appropriate, and what should we do if a seizure does not stop?,Does my child need a feeding tube, and what are the risks and benefits?,What signs should prompt us to go to the emergency room immediately?,What does palliative care involve, and when should we start?,Are there any research studies or registries we can participate in?,What support services are available for our family, including siblings and mental health support?
Common questions about Microlissencephaly-micromelia syndrome
What is Microlissencephaly-micromelia syndrome?
Microlissencephaly-micromelia syndrome is an extremely rare and severe brain development disorder that is present from birth. The name describes its two main features: 'microlissencephaly' means the brain is both unusually small (microcephaly) and has a smooth surface instead of the normal folds and grooves (lissencephaly), and 'micromelia' means the arms and legs are abnormally short. Together, these features point to a problem that affects how the brain and limbs grow during pregnancy. The condition is also sometimes referred to simply as microlissencephaly with micromelia. Babies born with
How is Microlissencephaly-micromelia syndrome inherited?
Microlissencephaly-micromelia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microlissencephaly-micromelia syndrome typically begin?
Typical onset of Microlissencephaly-micromelia syndrome is neonatal. Age of onset can vary across affected individuals.