Overview
Dysostosis with brachydactyly with extraskeletal manifestations is a very rare genetic condition that affects the bones, particularly the hands and feet, along with other parts of the body. 'Dysostosis' means that certain bones did not form properly during development, and 'brachydactyly' means that the fingers and toes are unusually short. Together, these features cause noticeable differences in the shape and length of the hands and feet from birth or early childhood. Beyond the skeleton, this condition can also affect other body systems, which is why it is described as having 'extraskeletal manifestations.' These may include differences in facial features, growth, and possibly other organs depending on the specific genetic cause in each person. Because this is an extremely rare condition, much of what is known comes from a small number of reported cases. There is currently no cure, and treatment focuses on managing individual symptoms and improving quality of life. A team of specialists is usually needed to address the different ways this condition can affect the body. Early diagnosis through genetic testing is important so that the right support and monitoring can be put in place as soon as possible.
Key symptoms:
Short fingers and toes (brachydactyly)Abnormally shaped or fused bones in the hands and feetDistinctive facial features such as a flat face or wide-set eyesShort stature or slower than usual growthDifferences in the shape of the skull or facePossible intellectual disability or learning difficultiesJoint stiffness or limited movement in the fingersAbnormalities in other bones of the bodyPossible heart or organ differences (extraskeletal features)
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 with extraskeletal manifestations.
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Specialists
View all specialists →No specialists are currently listed for Dysostosis with brachydactyly with 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 with 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
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 gene or genetic change is causing this condition in my child, and has it been identified yet?,Which body systems should we be monitoring beyond the bones and hands?,Would surgery on the hands or feet be helpful, and if so, when is the best time to consider it?,What therapies are available to help my child with daily tasks and school activities?,Are there other families or specialists who have experience with this specific condition?,What should I watch for that would mean my child needs to be seen urgently?,Are other family members at risk, and should they be tested?
Common questions about Dysostosis with brachydactyly with extraskeletal manifestations
What is Dysostosis with brachydactyly with extraskeletal manifestations?
Dysostosis with brachydactyly with extraskeletal manifestations is a very rare genetic condition that affects the bones, particularly the hands and feet, along with other parts of the body. 'Dysostosis' means that certain bones did not form properly during development, and 'brachydactyly' means that the fingers and toes are unusually short. Together, these features cause noticeable differences in the shape and length of the hands and feet from birth or early childhood. Beyond the skeleton, this condition can also affect other body systems, which is why it is described as having 'extraskeletal
How is Dysostosis with brachydactyly with extraskeletal manifestations inherited?
Dysostosis with brachydactyly with 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 with extraskeletal manifestations typically begin?
Typical onset of Dysostosis with brachydactyly with extraskeletal manifestations is neonatal. Age of onset can vary across affected individuals.