Overview
Dysostosis with brachydactyly is a rare inherited bone and skeletal condition. The name describes its two main features: 'dysostosis' means abnormal bone formation, and 'brachydactyly' means unusually short fingers and toes. Together, these cause distinctive changes in the hands, feet, and sometimes other parts of the skeleton. This condition is also sometimes referred to in medical literature as a form of skeletal dysplasia involving short digits and bone malformation. People with this condition are typically born with noticeably short fingers and toes, and may also have other bone abnormalities affecting the face, skull, or limbs. The severity can vary from person to person. Some individuals may have mild features that mainly affect appearance and hand function, while others may experience more significant skeletal differences that affect movement and daily activities. There is currently no cure for dysostosis with brachydactyly. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and in some cases surgery to improve hand or foot function. A team of specialists typically works together to support affected individuals throughout their lives.
Key symptoms:
Unusually short fingers and toes (brachydactyly)Abnormally shaped or fused bones in the hands and feetShort stature in some individualsFacial bone differences such as a flattened or unusual facial structureLimited range of motion in the fingers or toesAbnormal bone development in other parts of the skeletonNail abnormalities in some casesDifferences in the shape or size of the skull in some individuals
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.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Dysostosis with brachydactyly at this time.
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Specialists
View all specialists →No specialists are currently listed for Dysostosis with brachydactyly.
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.
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.Which specific bones are affected in my child, and how will this change as they grow?,Is genetic testing recommended for our family, and what gene should be tested?,What therapies would help most with hand and finger function right now?,Will surgery ever be needed, and if so, when is the best time to consider it?,Are there any other parts of the body we should monitor for complications?,Are there patient registries or research studies we can join to help advance understanding of this condition?,What school or workplace accommodations should we request?
Common questions about Dysostosis with brachydactyly
What is Dysostosis with brachydactyly?
Dysostosis with brachydactyly is a rare inherited bone and skeletal condition. The name describes its two main features: 'dysostosis' means abnormal bone formation, and 'brachydactyly' means unusually short fingers and toes. Together, these cause distinctive changes in the hands, feet, and sometimes other parts of the skeleton. This condition is also sometimes referred to in medical literature as a form of skeletal dysplasia involving short digits and bone malformation. People with this condition are typically born with noticeably short fingers and toes, and may also have other bone abnormali
How is Dysostosis with brachydactyly inherited?
Dysostosis with brachydactyly follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dysostosis with brachydactyly typically begin?
Typical onset of Dysostosis with brachydactyly is neonatal. Age of onset can vary across affected individuals.