OBSOLETE: Brachydactyly of fingers

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ORPHA:294996
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Overview

Brachydactyly of fingers is a condition where one or more fingers are shorter than normal. The word 'brachydactyly' comes from Greek and literally means 'short fingers.' This happens because the bones in the fingers (called phalanges) or the bones in the hand (called metacarpals) are shorter than usual, or because some of these small bones may be fused together. This entry in the Orphanet database is marked as 'OBSOLETE,' which means it has been retired as a standalone classification. Brachydactyly is now more precisely categorized into specific subtypes (such as brachydactyly type A1, A2, A3, B, C, D, E, and others), each with distinct genetic causes and patterns of finger shortening. Brachydactyly can occur as an isolated finding, meaning the short fingers are the only unusual feature, or it can be part of a broader genetic syndrome that affects other parts of the body. In most isolated cases, the condition is mild and does not cause significant functional problems. People with brachydactyly can usually grip, write, and perform daily tasks without difficulty, though some may notice reduced dexterity or hand strength depending on the severity. Treatment is generally not required unless there is significant functional limitation, in which case surgery or occupational therapy may be considered. Because this is now an obsolete classification, patients are encouraged to seek a more specific diagnosis through a clinical geneticist, as the exact subtype determines the genetic cause, inheritance pattern, and any associated health concerns.

Also known as:

Key symptoms:

Shorter than normal fingersOne or more fingers noticeably shorter than othersShortened bones in the fingers or handFingers that may appear stubby or wideReduced finger length compared to palm sizePossible stiffness in affected finger jointsMild difficulty with fine motor tasks in some casesNails may appear short or broad on affected fingersUneven finger lengths when comparing both hands

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Brachydactyly of fingers.

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No specialists are currently listed for OBSOLETE: Brachydactyly of fingers.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Caregiver Resources

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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 finding or could it be part of a genetic syndrome?,Should we pursue genetic testing to identify the exact cause?,Will this condition affect hand function over time?,Are there any therapies or exercises that could help with hand strength or dexterity?,Is there a chance this could be passed on to future children?,Should other family members be examined or tested?

Common questions about OBSOLETE: Brachydactyly of fingers

What is OBSOLETE: Brachydactyly of fingers?

Brachydactyly of fingers is a condition where one or more fingers are shorter than normal. The word 'brachydactyly' comes from Greek and literally means 'short fingers.' This happens because the bones in the fingers (called phalanges) or the bones in the hand (called metacarpals) are shorter than usual, or because some of these small bones may be fused together. This entry in the Orphanet database is marked as 'OBSOLETE,' which means it has been retired as a standalone classification. Brachydactyly is now more precisely categorized into specific subtypes (such as brachydactyly type A1, A2, A3,

At what age does OBSOLETE: Brachydactyly of fingers typically begin?

Typical onset of OBSOLETE: Brachydactyly of fingers is neonatal. Age of onset can vary across affected individuals.