Overview
Dysostosis with brachydactyly without extraskeletal manifestations is a rare inherited bone disorder that mainly affects the hands and feet. 'Dysostosis' means that certain bones did not form properly during development, and 'brachydactyly' means short fingers or toes. The phrase 'without extraskeletal manifestations' means that the condition is limited to the skeleton — it does not affect the heart, brain, eyes, or other internal organs. This makes it distinct from many other similar conditions that can involve multiple body systems. People with this condition are typically born with noticeably short fingers and/or toes, and some bones in the hands or feet may be unusually shaped or fused together. The condition is usually identified at birth or in early childhood when the hand and foot differences become visible. In most cases, intelligence and overall health are not affected. Treatment is focused on managing symptoms and improving hand and foot function. Depending on how severe the bone changes are, some people may benefit from physical or occupational therapy, and in certain cases surgery may be considered to improve movement or appearance. There is no cure, but many people with this condition live full, healthy lives with normal life expectancy.
Key symptoms:
Short fingers (brachydactyly)Short toesUnusually shaped bones in the hands or feetFused or missing finger or toe bonesReduced grip strength or hand functionDifficulty with fine motor tasks like writing or buttoningShortened metacarpal or metatarsal bones (the bones in the palm or sole)Asymmetry between hands or feet in some cases
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 Dysostosis with brachydactyly without extraskeletal manifestations.
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Specialists
View all specialists →No specialists are currently listed for Dysostosis with brachydactyly without extraskeletal manifestations.
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 Dysostosis with brachydactyly without extraskeletal manifestations.
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.Which specific bones are affected in my child's hands and feet, and how severe is it?,Should we do genetic testing, and which genes should be tested?,Will my child's hand function improve over time, or stay the same?,Is surgery recommended, and if so, what is the best timing?,What therapies would help most with daily tasks and school activities?,Are other family members at risk, and should they be tested?,Are there any specialists or centers with specific experience in this condition that you would recommend?
Common questions about Dysostosis with brachydactyly without extraskeletal manifestations
What is Dysostosis with brachydactyly without extraskeletal manifestations?
Dysostosis with brachydactyly without extraskeletal manifestations is a rare inherited bone disorder that mainly affects the hands and feet. 'Dysostosis' means that certain bones did not form properly during development, and 'brachydactyly' means short fingers or toes. The phrase 'without extraskeletal manifestations' means that the condition is limited to the skeleton — it does not affect the heart, brain, eyes, or other internal organs. This makes it distinct from many other similar conditions that can involve multiple body systems. People with this condition are typically born with noticea
How is Dysostosis with brachydactyly without extraskeletal manifestations inherited?
Dysostosis with brachydactyly without extraskeletal manifestations follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dysostosis with brachydactyly without extraskeletal manifestations typically begin?
Typical onset of Dysostosis with brachydactyly without extraskeletal manifestations is neonatal. Age of onset can vary across affected individuals.