Overview
Treft-Sanborn-Carey syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in the medical literature and is characterized by a combination of features including overgrowth (being larger than expected for age), distinctive facial features, and developmental differences. Individuals with this syndrome may have a large head size (macrocephaly), unusual facial characteristics, and may experience intellectual disability or developmental delays. Some patients also have skeletal abnormalities and other physical differences. Because this condition is so rare, with very few cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment is still limited. There is currently no cure for Treft-Sanborn-Carey syndrome. Treatment focuses on managing individual symptoms and supporting development. This typically involves a team of specialists who address the specific needs of each patient, such as developmental therapists, orthopedic specialists, and geneticists. Early intervention services for developmental delays can be particularly helpful in improving outcomes for affected children.
Also known as:
Key symptoms:
Overgrowth or being larger than expectedLarge head sizeDistinctive facial featuresIntellectual disability or learning difficultiesDevelopmental delaysSkeletal abnormalitiesUnusual body proportionsLow muscle toneSpeech delays
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 Treft-Sanborn-Carey syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Treft-Sanborn-Carey syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Treft-Sanborn-Carey 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 Treft-Sanborn-Carey 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 features of my child's condition led to this diagnosis?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,What developmental therapies do you recommend starting right away?,How often should my child be seen for follow-up evaluations?,Are there any complications we should watch for as my child grows?,Can you refer us to a clinical geneticist who has experience with overgrowth syndromes?,Are there any research studies or registries we should consider joining?
Common questions about Treft-Sanborn-Carey syndrome
What is Treft-Sanborn-Carey syndrome?
Treft-Sanborn-Carey syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in the medical literature and is characterized by a combination of features including overgrowth (being larger than expected for age), distinctive facial features, and developmental differences. Individuals with this syndrome may have a large head size (macrocephaly), unusual facial characteristics, and may experience intellectual disability or developmental delays. Some patients also have skeletal abnormalities and other physical differences. Because this condition i
How is Treft-Sanborn-Carey syndrome inherited?
Treft-Sanborn-Carey syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Treft-Sanborn-Carey syndrome typically begin?
Typical onset of Treft-Sanborn-Carey syndrome is neonatal. Age of onset can vary across affected individuals.