Overview
Cerebral gigantism-jaw cysts syndrome, also known as Sotos syndrome with jaw cysts or sometimes referenced in relation to Gorlin-like features combined with overgrowth, is an extremely rare condition that combines features of excessive growth (cerebral gigantism) with the development of cysts in the jawbones. Children with this condition typically show rapid growth before and after birth, resulting in a large head size, tall stature, and distinctive facial features including a prominent forehead and a long face. The jaw cysts, which are fluid-filled sacs that develop in the bones of the jaw, can cause dental problems, jaw swelling, and pain. Some affected individuals may also experience learning difficulties or mild intellectual disability, delayed motor development, and behavioral challenges. Because this condition is so rare, the treatment approach is largely supportive and symptom-based. Growth and development are monitored closely throughout childhood. Jaw cysts may require surgical removal, and dental care is an important part of ongoing management. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Excessive growth and tall stature in childhoodLarge head size (macrocephaly)Prominent foreheadLong face with distinctive facial featuresCysts in the jawbonesJaw swelling or painDental abnormalitiesMild to moderate intellectual disabilityDelayed motor milestones such as walkingSpeech and language delaysAdvanced bone age on X-raysBehavioral difficultiesLarge hands and feetPoor coordination or clumsiness
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Cerebral gigantism-jaw cysts syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cerebral gigantism-jaw cysts 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 Cerebral gigantism-jaw cysts syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 testing should my child have to confirm this diagnosis?,How often should my child have jaw imaging to check for new cysts?,What developmental therapies would benefit my child the most right now?,Are there any signs or symptoms I should watch for that would need urgent medical attention?,Will my child's growth rate slow down as they get older?,What is the chance that future children in our family could have this condition?,Are there any specialists or centers with experience managing this specific condition?
Common questions about Cerebral gigantism-jaw cysts syndrome
What is Cerebral gigantism-jaw cysts syndrome?
Cerebral gigantism-jaw cysts syndrome, also known as Sotos syndrome with jaw cysts or sometimes referenced in relation to Gorlin-like features combined with overgrowth, is an extremely rare condition that combines features of excessive growth (cerebral gigantism) with the development of cysts in the jawbones. Children with this condition typically show rapid growth before and after birth, resulting in a large head size, tall stature, and distinctive facial features including a prominent forehead and a long face. The jaw cysts, which are fluid-filled sacs that develop in the bones of the jaw, c
How is Cerebral gigantism-jaw cysts syndrome inherited?
Cerebral gigantism-jaw cysts syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cerebral gigantism-jaw cysts syndrome typically begin?
Typical onset of Cerebral gigantism-jaw cysts syndrome is childhood. Age of onset can vary across affected individuals.