Overview
Thomas syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to as Thomas syndrome (Orphanet 3316). The condition is characterized by a combination of skeletal abnormalities, facial differences, and other developmental features. Patients may present with short stature, distinctive facial features, and limb abnormalities. Because this syndrome is so rare, with very few cases described in the medical literature, our understanding of the full range of symptoms and their severity is limited. The condition falls under the broader category of multiple congenital anomaly syndromes, meaning that several parts of the body are affected from birth. Skeletal findings may include abnormalities of the hands and feet, while facial features can include a broad or flat nasal bridge and other distinctive characteristics. Some individuals may also experience developmental delays or intellectual disability, though the severity can vary from person to person. There is currently no cure for Thomas syndrome. Treatment is supportive and focuses on managing individual symptoms. This may include orthopedic care for skeletal problems, developmental support services, and regular monitoring by a team of specialists. Because so few cases have been reported, treatment plans are typically tailored to each patient's specific needs.
Also known as:
Key symptoms:
Short statureDistinctive facial featuresAbnormalities of the hands or feetBroad or flat nasal bridgeSkeletal abnormalitiesPossible developmental delaysPossible intellectual disabilityLimb differences
Clinical phenotype terms (11)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Thomas syndrome.
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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 Thomas 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 this syndrome does my child have, and how severe are they?,Should we pursue genetic testing, and what type would be most helpful?,What specialists should be part of our care team?,Are there any complications we should watch for as my child grows?,What therapies or early intervention services do you recommend?,Is there any research or clinical trial we could participate in?,How often should we schedule follow-up visits?
Common questions about Thomas syndrome
What is Thomas syndrome?
Thomas syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to as Thomas syndrome (Orphanet 3316). The condition is characterized by a combination of skeletal abnormalities, facial differences, and other developmental features. Patients may present with short stature, distinctive facial features, and limb abnormalities. Because this syndrome is so rare, with very few cases described in the medical literature, our understanding of the full range of symptoms and their severity is limited. The condition falls under the broader category
At what age does Thomas syndrome typically begin?
Typical onset of Thomas syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Thomas syndrome?
1 specialists and care centers treating Thomas syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.