Overview
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is an extremely rare genetic condition that affects brain development and physical features. The syndrome is characterized by three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), a smaller-than-normal corpus callosum (the bundle of nerve fibers that connects the two halves of the brain), and preauricular tags (small skin growths located in front of the ears). Because the corpus callosum is underdeveloped (hypoplastic), communication between the left and right sides of the brain may be impaired, which can contribute to learning difficulties and developmental delays. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and speaking. The severity of intellectual disability can vary from mild to more significant. Some individuals may also have additional physical features or birth differences. Because this syndrome is so rare, with very few cases described in the medical literature, the full range of symptoms and long-term outcomes is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through early intervention programs, special education services, speech therapy, occupational therapy, and physical therapy. Regular monitoring by a team of specialists helps ensure that each person receives the care they need to reach their full potential.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesSmaller-than-normal connection between the two brain halves (hypoplastic corpus callosum)Small skin tags in front of the ears (preauricular tags)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingPossible short staturePossible unusual facial featuresDifficulty with coordinationBehavioral challengesPossible hearing problems
Clinical phenotype terms (27)— 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 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-hypoplastic corpus callosum-preauricular tag 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 Intellectual disability-hypoplastic corpus callosum-preauricular tag 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 severity of my child's intellectual disability, and what level of support will they likely need?,What does the brain MRI show about the corpus callosum, and how might this affect my child's development?,What early intervention therapies do you recommend, and how often should they occur?,Should we pursue genetic testing, and what type of testing would be most helpful?,Are there any associated health problems we should screen for, such as hearing loss or seizures?,What educational resources and support services are available for our family?,Is there a risk that future children could also have this condition?
Common questions about Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
What is Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome?
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is an extremely rare genetic condition that affects brain development and physical features. The syndrome is characterized by three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), a smaller-than-normal corpus callosum (the bundle of nerve fibers that connects the two halves of the brain), and preauricular tags (small skin growths located in front of the ears). Because the corpus callosum is underdeveloped (hypoplastic), communication between the left and right sides
How is Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome inherited?
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome typically begin?
Typical onset of Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is neonatal. Age of onset can vary across affected individuals.