Overview
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is an extremely rare genetic condition that affects brain development and physical appearance. The name describes its main features: intellectual disability (difficulty with learning and thinking), coarse facial features (thicker or more prominent facial structures), macrocephaly (a larger-than-average head size), and cerebellar hypotrophy (underdevelopment of the cerebellum, the part of the brain that helps control movement and balance). Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. The coarse facial features may become more noticeable as the child grows. Because the cerebellum is smaller than expected, affected individuals may have problems with coordination and balance. Additional features can include behavioral difficulties and seizures in some cases. This syndrome is caused by mutations in the HERC1 gene, which plays an important role in brain development and cell signaling. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through therapies such as speech therapy, physical therapy, and occupational therapy. Early intervention programs can help children reach their fullest potential. A team of specialists typically works together to address the various aspects of this syndrome.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesLarger-than-average head sizeCoarse or thick facial featuresUnderdevelopment of the cerebellum (back part of the brain)Delayed motor milestones like sitting and walkingSpeech and language delaysPoor coordination and balance problemsLow muscle toneBehavioral difficultiesSeizures in some casesThick eyebrows or prominent foreheadShort stature in some individuals
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy 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-coarse face-macrocephaly-cerebellar hypotrophy 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 expected developmental trajectory for my child based on their specific genetic findings?,What therapies should we start right away, and how often should they occur?,Should we be concerned about seizures, and what signs should we watch for?,How often should brain MRI scans be repeated to monitor the cerebellum?,Are there any clinical trials or research studies we could participate in?,What educational supports and accommodations should we request for school?,Should other family members be tested to see if they are carriers of the HERC1 mutation?
Common questions about Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
What is Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome?
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is an extremely rare genetic condition that affects brain development and physical appearance. The name describes its main features: intellectual disability (difficulty with learning and thinking), coarse facial features (thicker or more prominent facial structures), macrocephaly (a larger-than-average head size), and cerebellar hypotrophy (underdevelopment of the cerebellum, the part of the brain that helps control movement and balance). Children with this condition typically show delays in reaching developmental
How is Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome inherited?
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome typically begin?
Typical onset of Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is infantile. Age of onset can vary across affected individuals.