OBSOLETE: Brachydactyly of fingers, bilateral

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ORPHA:295130
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Overview

Brachydactyly of fingers, bilateral, refers to a condition where the fingers on both hands are shorter than normal. The term 'brachydactyly' comes from Greek words meaning 'short fingers.' This Orphanet entry is marked as OBSOLETE, which means it has been retired or merged into other, more specific classifications of brachydactyly. Brachydactyly can occur as an isolated finding or as part of a broader genetic syndrome. When it occurs on its own, it is usually inherited and present from birth. The shortening happens because one or more of the small bones (phalanges) or hand bones (metacarpals) in the fingers do not grow to their full length. There are several recognized types of brachydactyly (types A through E and subtypes), each affecting different fingers and bones in slightly different ways. Many people with isolated brachydactyly have normal hand function and live completely normal lives, though some may experience mild difficulty with fine motor tasks like gripping small objects. Treatment is usually not needed unless hand function is significantly affected, in which case surgery or occupational therapy may be considered. Because this specific Orphanet code is obsolete, patients and doctors should look for the more specific type of brachydactyly that applies to their situation for the most accurate information and guidance.

Also known as:

Key symptoms:

Shorter than normal fingers on both handsOne or more finger bones that are unusually shortFingers that may appear stubby or wideMild difficulty gripping small objectsReduced finger length noticeable at birthPossible stiffness in finger jointsNails may appear short or broad

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, bilateral.

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No actively recruiting trials found for OBSOLETE: Brachydactyly of fingers, bilateral at this time.

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

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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

No travel grants are currently matched to OBSOLETE: Brachydactyly of fingers, bilateral.

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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 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 hand function be affected as my child grows?,Is occupational therapy recommended to help with fine motor skills?,Are there any other health concerns we should screen for?,What is the chance of passing this condition to future children?

Common questions about OBSOLETE: Brachydactyly of fingers, bilateral

What is OBSOLETE: Brachydactyly of fingers, bilateral?

Brachydactyly of fingers, bilateral, refers to a condition where the fingers on both hands are shorter than normal. The term 'brachydactyly' comes from Greek words meaning 'short fingers.' This Orphanet entry is marked as OBSOLETE, which means it has been retired or merged into other, more specific classifications of brachydactyly. Brachydactyly can occur as an isolated finding or as part of a broader genetic syndrome. When it occurs on its own, it is usually inherited and present from birth. The shortening happens because one or more of the small bones (phalanges) or hand bones (metacarpals)

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

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