Overview
Microcephaly-microcornea syndrome, Seemanova type, is an extremely rare genetic condition first described by Dr. Eva Seemanová. The syndrome is characterized by two main features: microcephaly, which means the head is smaller than expected for a person's age and sex, and microcornea, which means the clear front part of the eye (the cornea) is abnormally small. These features are present from birth and can be associated with additional problems. People with this condition typically have intellectual disability that can range from mild to severe. Vision problems are common due to the small corneas and may include other eye abnormalities. Some affected individuals may also have short stature, distinctive facial features, and other developmental differences. The severity of symptoms can vary from person to person, even within the same family. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms. This may include special education support for intellectual disability, corrective lenses or other eye treatments for vision problems, and regular monitoring by a team of specialists. Early intervention services for developmental delays can help children reach their full potential.
Also known as:
Key symptoms:
Abnormally small head (microcephaly)Small corneas of the eyes (microcornea)Intellectual disabilityShort statureVision problemsDevelopmental delaysDistinctive facial featuresLearning difficultiesPossible seizuresDelayed speech development
Clinical phenotype terms (15)— 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 Microcephaly-microcornea syndrome, Seemanova type.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-microcornea syndrome, Seemanova type.
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 Microcephaly-microcornea syndrome, Seemanova type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 severity of my child's microcephaly and how might it affect their development?,What specific eye problems should we watch for, and how often should eye exams be done?,What early intervention therapies would benefit my child the most right now?,Should we pursue genetic testing such as whole exome sequencing to look for the exact cause?,Are there any signs of seizures we should watch for at home?,What educational supports and accommodations should we request for school?,What is the chance that future children could also be affected, and should we see a genetic counselor?
Common questions about Microcephaly-microcornea syndrome, Seemanova type
What is Microcephaly-microcornea syndrome, Seemanova type?
Microcephaly-microcornea syndrome, Seemanova type, is an extremely rare genetic condition first described by Dr. Eva Seemanová. The syndrome is characterized by two main features: microcephaly, which means the head is smaller than expected for a person's age and sex, and microcornea, which means the clear front part of the eye (the cornea) is abnormally small. These features are present from birth and can be associated with additional problems. People with this condition typically have intellectual disability that can range from mild to severe. Vision problems are common due to the small corn
How is Microcephaly-microcornea syndrome, Seemanova type inherited?
Microcephaly-microcornea syndrome, Seemanova type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-microcornea syndrome, Seemanova type typically begin?
Typical onset of Microcephaly-microcornea syndrome, Seemanova type is neonatal. Age of onset can vary across affected individuals.