Overview
Overgrowth-macrocephaly-facial dysmorphism syndrome is a rare genetic condition that causes children to grow faster and larger than expected, have an unusually large head (called macrocephaly), and have distinctive facial features. This condition belongs to a group of disorders known as overgrowth syndromes. Children with this syndrome may show rapid growth even before birth, and their head circumference is often well above average for their age. Facial features may include a broad forehead, widely spaced eyes, and other subtle differences in facial structure. Beyond the physical features, some children may experience developmental delays, learning difficulties, or mild to moderate intellectual disability. Other possible features include low muscle tone (hypotonia), joint looseness, and sometimes differences in the hands or feet. The severity of symptoms can vary widely from one person to another. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and special education services. Regular monitoring by a team of specialists helps ensure that any complications are caught early and managed appropriately. With proper support, many individuals can make meaningful developmental progress and lead fulfilling lives.
Key symptoms:
Larger than expected body size (overgrowth)Unusually large headDistinctive facial featuresBroad foreheadWidely spaced eyesDevelopmental delaysLearning difficultiesLow muscle toneLoose or flexible jointsAdvanced bone ageTall stature for ageMild to moderate intellectual disabilityDifferences in hand or foot shapeFeeding difficulties in infancy
Clinical phenotype terms (26)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Overgrowth-macrocephaly-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Overgrowth-macrocephaly-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 Overgrowth-macrocephaly-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
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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 specific genetic change is causing my child's condition?,What developmental milestones should I watch for, and when should I be concerned?,How often should my child have growth and head circumference monitored?,What therapies do you recommend starting right away?,Are there any complications I should watch for as my child grows?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies my child might be eligible for?
Common questions about Overgrowth-macrocephaly-facial dysmorphism syndrome
What is Overgrowth-macrocephaly-facial dysmorphism syndrome?
Overgrowth-macrocephaly-facial dysmorphism syndrome is a rare genetic condition that causes children to grow faster and larger than expected, have an unusually large head (called macrocephaly), and have distinctive facial features. This condition belongs to a group of disorders known as overgrowth syndromes. Children with this syndrome may show rapid growth even before birth, and their head circumference is often well above average for their age. Facial features may include a broad forehead, widely spaced eyes, and other subtle differences in facial structure. Beyond the physical features, so
How is Overgrowth-macrocephaly-facial dysmorphism syndrome inherited?
Overgrowth-macrocephaly-facial dysmorphism syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Overgrowth-macrocephaly-facial dysmorphism syndrome typically begin?
Typical onset of Overgrowth-macrocephaly-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.