Overview
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: megalencephaly (an abnormally large brain), severe kyphoscoliosis (an abnormal curvature of the spine that combines both a forward rounding and a sideways curve), and overgrowth (the body or parts of the body grow larger than expected). This condition is caused by changes in the CCND2 gene, which plays a role in controlling how cells grow and divide. Children with this syndrome are often born larger than average and may have a noticeably large head at birth or in early infancy. The spine curvature can become severe over time and may affect breathing and mobility. Intellectual disability and developmental delays are common, meaning children may take longer to reach milestones like sitting, walking, and talking. Some individuals may also experience seizures. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms. This may include physical therapy, orthopedic care for the spine curvature (sometimes including surgery), seizure medications if needed, and developmental support services such as speech and occupational therapy. A team of specialists working together is important to provide the best possible care for affected individuals.
Key symptoms:
Abnormally large head (megalencephaly)Severe curvature of the spine (kyphoscoliosis)Body overgrowth or being larger than expectedIntellectual disabilityDelayed developmental milestonesSeizures or epilepsyLow muscle tone (feeling floppy)Distinctive facial featuresDifficulty with balance and coordinationSpeech and language delaysJoint looseness or hypermobilityFeeding difficulties in infancyBreathing problems related to spine curvature
Clinical phenotype terms (50)— 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 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome.
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Specialists
View all specialists →No specialists are currently listed for Megalencephaly-severe kyphoscoliosis-overgrowth 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 Megalencephaly-severe kyphoscoliosis-overgrowth 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.How severe is my child's brain enlargement, and what does the brain MRI show?,How quickly is the spinal curvature progressing, and when might surgery be needed?,What therapies should we start right away to support development?,Is my child at risk for seizures, and what should I watch for?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child's mobility and independence?,Should other family members be tested for the CCND2 gene change?
Common questions about Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
What is Megalencephaly-severe kyphoscoliosis-overgrowth syndrome?
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: megalencephaly (an abnormally large brain), severe kyphoscoliosis (an abnormal curvature of the spine that combines both a forward rounding and a sideways curve), and overgrowth (the body or parts of the body grow larger than expected). This condition is caused by changes in the CCND2 gene, which plays a role in controlling how cells grow and divide. Children with this syndrome are often born larger than average and may have
How is Megalencephaly-severe kyphoscoliosis-overgrowth syndrome inherited?
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Megalencephaly-severe kyphoscoliosis-overgrowth syndrome typically begin?
Typical onset of Megalencephaly-severe kyphoscoliosis-overgrowth syndrome is neonatal. Age of onset can vary across affected individuals.