Overview
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development and causes distinctive facial features. The name describes its main features: microcephaly (a smaller-than-expected head size), hypoplasia (underdevelopment) of the corpus callosum (the band of nerve fibers connecting the two halves of the brain), intellectual disability, and facial dysmorphism (unusual facial features). Because the brain does not develop as expected, children with this condition typically experience delays in reaching developmental milestones such as sitting, walking, and talking. The degree of intellectual disability can range from mild to severe. Facial features may include a prominent forehead, widely spaced eyes, a flat nasal bridge, and other distinctive characteristics that a trained geneticist may recognize. Some affected individuals may also experience seizures and other neurological problems. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting development through therapies such as speech therapy, physical therapy, occupational therapy, and special education programs. Seizures, if present, are managed with anti-seizure medications. Early intervention services can help children reach their fullest potential. A team of specialists typically works together to address the various aspects of this condition.
Also known as:
Key symptoms:
Smaller than normal head sizeIntellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingUnusual facial featuresUnderdevelopment of the connection between brain halvesSeizuresShort statureLow muscle toneLearning difficultiesBehavioral challengesWidely spaced eyesFlat nasal bridgeProminent forehead
Clinical phenotype terms (38)— 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 hypoplasia-intellectual disability-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism 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 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome.
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 specific genetic cause of my child's condition, and should we pursue further genetic testing?,What therapies should we start right away, and how often should they occur?,Is my child at risk for seizures, and what should I do if one occurs?,What developmental milestones should we be watching for, and when should I be concerned?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's independence and quality of life?,If we plan to have more children, what is the chance they could also be affected?
Common questions about Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
What is Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome?
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development and causes distinctive facial features. The name describes its main features: microcephaly (a smaller-than-expected head size), hypoplasia (underdevelopment) of the corpus callosum (the band of nerve fibers connecting the two halves of the brain), intellectual disability, and facial dysmorphism (unusual facial features). Because the brain does not develop as expected, children with this condition typically experience delays in reachin
How is Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome inherited?
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome typically begin?
Typical onset of Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.