Overview
Vasquez-Hurst-Sotos syndrome is an extremely rare genetic condition that was first described in the medical literature in the 1970s. It is sometimes referred to as cerebral gigantism with jaw cysts or Sotos-like syndrome with jaw abnormalities. This condition shares features with Sotos syndrome, including overgrowth (being larger than expected for age), intellectual disability, and distinctive facial features. However, it is distinguished by the additional presence of cysts in the jawbones (cherubism-like jaw lesions). Affected individuals typically show rapid growth in early childhood, with a large head size (macrocephaly), a long face, a prominent forehead, and a pointed chin. Developmental delays are common, including delays in speech and motor skills. Some children may also have behavioral challenges. The jaw cysts can cause swelling of the face and may affect the teeth. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms. This may include special education support, speech therapy, physical therapy, and dental or surgical care for jaw cysts. Regular monitoring by a team of specialists is important to manage the various aspects of the condition as the child grows.
Key symptoms:
Rapid growth and tall stature in childhoodLarge head sizeProminent foreheadLong face with pointed chinIntellectual disability or learning difficultiesDelayed speech developmentDelayed motor milestonesCysts or bony growths in the jawFacial swelling due to jaw cystsDental problemsBehavioral difficultiesAdvanced bone agePoor coordination
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 Vasquez-Hurst-Sotos syndrome.
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Specialists
View all specialists →No specialists are currently listed for Vasquez-Hurst-Sotos 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 Vasquez-Hurst-Sotos 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 specific genetic testing should be done to confirm or clarify the diagnosis?,How often should my child's jaw be monitored with imaging?,What therapies do you recommend to support my child's development?,Are there any signs I should watch for that would require emergency care?,Will my child's growth pattern change as they get older?,What educational supports should I request from my child's school?,Is there a risk that future children could also have this condition?
Common questions about Vasquez-Hurst-Sotos syndrome
What is Vasquez-Hurst-Sotos syndrome?
Vasquez-Hurst-Sotos syndrome is an extremely rare genetic condition that was first described in the medical literature in the 1970s. It is sometimes referred to as cerebral gigantism with jaw cysts or Sotos-like syndrome with jaw abnormalities. This condition shares features with Sotos syndrome, including overgrowth (being larger than expected for age), intellectual disability, and distinctive facial features. However, it is distinguished by the additional presence of cysts in the jawbones (cherubism-like jaw lesions). Affected individuals typically show rapid growth in early childhood, with
How is Vasquez-Hurst-Sotos syndrome inherited?
Vasquez-Hurst-Sotos syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Vasquez-Hurst-Sotos syndrome typically begin?
Typical onset of Vasquez-Hurst-Sotos syndrome is childhood. Age of onset can vary across affected individuals.