Overview
Microphthalmia-microtia-fetal akinesia syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. The name describes its three main features: microphthalmia (abnormally small eyes), microtia (underdeveloped or small ears), and fetal akinesia (reduced or absent movement of the baby in the womb). Because the baby does not move normally during pregnancy, many secondary problems can develop, including joint contractures (joints that are stiff and fixed in one position), lung underdevelopment, and abnormal limb positioning. Affected babies may also have other birth defects involving the face, skeleton, and internal organs. This syndrome is typically identified before or at birth. The reduced fetal movement during pregnancy is often one of the first signs noticed, sometimes detected on prenatal ultrasound. The combination of very small eyes, small or malformed ears, and multiple joint contractures at birth is what leads doctors to consider this specific diagnosis. Unfortunately, the prognosis for this condition is very poor. Many affected pregnancies end in stillbirth, and babies born alive often have severe complications, particularly related to underdeveloped lungs. There is currently no cure or disease-modifying treatment. Care is supportive and focuses on managing symptoms and providing comfort. Because this condition is so rare, much about its underlying cause and biology remains poorly understood, and research is very limited.
Also known as:
Key symptoms:
Abnormally small eyes (microphthalmia)Small or underdeveloped ears (microtia)Reduced or absent fetal movement during pregnancyStiff, fixed joints at birth (joint contractures)Underdeveloped lungsAbnormal positioning of the limbsFacial abnormalitiesDifficulty breathing at birthSkeletal abnormalitiesExcess skin or webbing at jointsLow muscle tone or muscle wastingCleft palate or other mouth abnormalitiesGrowth restriction before birth
Clinical phenotype terms (14)— 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 Microphthalmia-microtia-fetal akinesia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microphthalmia-microtia-fetal akinesia 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 Microphthalmia-microtia-fetal akinesia 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 is the expected outlook for our baby with this diagnosis?,Is genetic testing available to confirm the diagnosis and help us understand the cause?,What is the chance that this condition could happen again in a future pregnancy?,What supportive care options are available for our baby?,Can we be referred to a palliative care team for additional support?,Are there any clinical studies or research programs we could participate in?,What prenatal testing options would be available in a future pregnancy?
Common questions about Microphthalmia-microtia-fetal akinesia syndrome
What is Microphthalmia-microtia-fetal akinesia syndrome?
Microphthalmia-microtia-fetal akinesia syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. The name describes its three main features: microphthalmia (abnormally small eyes), microtia (underdeveloped or small ears), and fetal akinesia (reduced or absent movement of the baby in the womb). Because the baby does not move normally during pregnancy, many secondary problems can develop, including joint contractures (joints that are stiff and fixed in one position), lung underdevelopment, and abnormal limb positioning. Affected babies may a
How is Microphthalmia-microtia-fetal akinesia syndrome inherited?
Microphthalmia-microtia-fetal akinesia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microphthalmia-microtia-fetal akinesia syndrome typically begin?
Typical onset of Microphthalmia-microtia-fetal akinesia syndrome is neonatal. Age of onset can vary across affected individuals.