Overview
Thumb stiffness-brachydactyly-intellectual disability syndrome is an extremely rare genetic condition that affects the hands, growth, and brain development. The name describes its three main features: stiffness of the thumbs, brachydactyly (which means abnormally short fingers and toes), and intellectual disability. Children born with this condition typically have thumbs that are stiff and difficult to bend, along with noticeably shorter fingers. Intellectual disability can range from mild to moderate, affecting learning, speech, and daily problem-solving skills. In addition to the hand abnormalities and cognitive challenges, some individuals may have other skeletal differences, short stature, and distinctive facial features. The condition is present from birth, and the hand and finger abnormalities are usually among the first signs noticed by parents or doctors. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on supportive care, including occupational therapy to improve hand function, special education services to support learning, and regular monitoring by a team of specialists. Physical therapy and adaptive devices may also help improve daily functioning. Early intervention programs can make a meaningful difference in a child's development and quality of life.
Also known as:
Key symptoms:
Stiff thumbs that are hard to bendShort fingers and toes (brachydactyly)Intellectual disabilityDelayed speech and language developmentShort statureLearning difficultiesLimited hand movement and gripPossible distinctive facial featuresDelayed developmental milestonesSkeletal abnormalities in the hands
Clinical phenotype terms (6)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Thumb stiffness-brachydactyly-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Thumb stiffness-brachydactyly-intellectual disability 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 Thumb stiffness-brachydactyly-intellectual disability 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
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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 therapies are most important to start right away for my child?,Should we pursue genetic testing, and what might it tell us?,How can we best support my child's learning and development at home and school?,Are there any surgical options to improve thumb or hand movement?,What developmental milestones should we be watching for?,Is genetic counseling recommended for our family regarding future pregnancies?,Are there any other specialists my child should see regularly?
Common questions about Thumb stiffness-brachydactyly-intellectual disability syndrome
What is Thumb stiffness-brachydactyly-intellectual disability syndrome?
Thumb stiffness-brachydactyly-intellectual disability syndrome is an extremely rare genetic condition that affects the hands, growth, and brain development. The name describes its three main features: stiffness of the thumbs, brachydactyly (which means abnormally short fingers and toes), and intellectual disability. Children born with this condition typically have thumbs that are stiff and difficult to bend, along with noticeably shorter fingers. Intellectual disability can range from mild to moderate, affecting learning, speech, and daily problem-solving skills. In addition to the hand abnor
How is Thumb stiffness-brachydactyly-intellectual disability syndrome inherited?
Thumb stiffness-brachydactyly-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Thumb stiffness-brachydactyly-intellectual disability syndrome typically begin?
Typical onset of Thumb stiffness-brachydactyly-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.