Overview
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome is a very rare brain development disorder that affects children from birth. The name describes the main features: microcephaly means the head and brain are smaller than usual; corpus callosum hypoplasia means the band of nerve fibers connecting the two sides of the brain did not fully develop; cerebellar vermis hypoplasia means the lower back part of the brain (which controls balance and coordination) is underdeveloped; facial dysmorphism refers to distinctive facial features; and intellectual disability means learning and thinking are affected. This condition is sometimes referred to by its Orphanet code ORPHA:500159. Because the brain does not develop normally before birth, children with this syndrome typically show signs early in life, including a smaller-than-normal head size, delayed milestones like sitting and walking, and challenges with learning and communication. Seizures and problems with muscle tone are also commonly reported. Facial features may include a distinctive appearance that a specialist can recognize. There is currently no cure for this syndrome. Care focuses on managing symptoms, supporting development, and improving quality of life. This includes therapies such as physical, occupational, and speech therapy, as well as medications to control seizures if they occur. A team of specialists works together to support the child and family.
Key symptoms:
Smaller than normal head size (microcephaly)Intellectual disability and learning difficultiesDelayed developmental milestones such as sitting, walking, and talkingUnderdeveloped connection between the two sides of the brain (corpus callosum hypoplasia)Underdeveloped lower back part of the brain affecting balance and coordination (cerebellar vermis hypoplasia)Distinctive facial featuresSeizuresLow or high muscle toneDifficulty with speech and communicationPoor coordination and balance problems
Clinical phenotype terms (50)— 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-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom.
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-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom.
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 genetic tests should my child have, and what might the results tell us about the cause?,What therapies should we start right away, and how often should my child attend them?,What signs of seizures should I watch for, and when should I call for emergency help?,What educational support and early intervention programs are available for my child?,Are there any clinical trials or research studies we could consider joining?,What is the likely progression of this condition as my child grows older?,Are other family members at risk, and should they be tested?
Common questions about Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
What is Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom?
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome is a very rare brain development disorder that affects children from birth. The name describes the main features: microcephaly means the head and brain are smaller than usual; corpus callosum hypoplasia means the band of nerve fibers connecting the two sides of the brain did not fully develop; cerebellar vermis hypoplasia means the lower back part of the brain (which controls balance and coordination) is underdeveloped; facial dysmorphism refers to distinctive facial features; and
How is Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom inherited?
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom typically begin?
Typical onset of Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom is neonatal. Age of onset can vary across affected individuals.