Overview
Brachydactyly is a group of inherited conditions where the fingers and/or toes are shorter than usual. The name comes from Greek words meaning 'short fingers.' In brachydactyly, one or more of the small bones (called phalanges) in the fingers or toes are unusually short or may be missing entirely. This can affect one hand or both, and the severity varies widely — some people have mildly shortened fingers that cause little trouble, while others may have more noticeable differences that can affect hand function. There are several different types of brachydactyly (labeled A through E, with subtypes), each affecting different fingers or parts of the fingers. Some types occur on their own (isolated brachydactyly), while others appear as part of a larger genetic syndrome that affects other parts of the body as well. Many people with isolated brachydactyly live completely normal lives and may not even realize they have the condition until it is pointed out. Note: This Orphanet entry (294937) is marked as 'OBSOLETE,' meaning it has been retired or merged into more specific classifications. Patients should look for the specific subtype of brachydactyly they have been diagnosed with for the most accurate and up-to-date information. Treatment is generally not needed for mild cases, but surgery or occupational therapy may help when hand function is significantly affected.
Key symptoms:
Shortened fingersShortened toesMissing finger or toe bonesFingers that look stubby or unusually shortReduced grip strength in some casesDifficulty with fine motor tasks like buttoning clothesOne or more fingers noticeably shorter than othersShortened middle bones of the fingersNail abnormalities on affected digitsStiff finger joints in some types
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 OBSOLETE: Brachydactyly.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: 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 OBSOLETE: 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.What specific type of brachydactyly does my child (or do I) have?,Is this an isolated condition or part of a larger genetic syndrome?,Should we pursue genetic testing to identify the exact gene involved?,Will this affect hand function, and would occupational therapy help?,Is surgery an option, and what are the risks and benefits?,What is the chance of passing this condition to future children?,Are there any other health concerns we should screen for?
Common questions about OBSOLETE: Brachydactyly
What is OBSOLETE: Brachydactyly?
Brachydactyly is a group of inherited conditions where the fingers and/or toes are shorter than usual. The name comes from Greek words meaning 'short fingers.' In brachydactyly, one or more of the small bones (called phalanges) in the fingers or toes are unusually short or may be missing entirely. This can affect one hand or both, and the severity varies widely — some people have mildly shortened fingers that cause little trouble, while others may have more noticeable differences that can affect hand function. There are several different types of brachydactyly (labeled A through E, with subty
At what age does OBSOLETE: Brachydactyly typically begin?
Typical onset of OBSOLETE: Brachydactyly is neonatal. Age of onset can vary across affected individuals.