OBSOLETE: Brachydactyly of fingers, unilateral

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ORPHA:295128
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Overview

Brachydactyly of fingers, unilateral, refers to a condition where the fingers on one hand are abnormally short compared to the other hand. The term 'brachydactyly' comes from Greek words meaning 'short fingers.' In this condition, one or more of the small bones (phalanges) or hand bones (metacarpals) in the fingers of only one hand are shorter than normal, while the other hand appears typical. This is notable because most forms of brachydactyly affect both hands equally. It is important to note that this entry has been marked as 'OBSOLETE' in the Orphanet classification system, meaning it is no longer considered a distinct, standalone diagnosis. It may have been reclassified, merged into a broader category of brachydactyly or limb malformation conditions, or recognized as a feature of another syndrome rather than a separate disease. Patients who were previously given this diagnosis should speak with a clinical geneticist to determine whether a more current and specific diagnosis applies to their situation. Unilateral brachydactyly affecting only one hand may occur as an isolated finding or as part of a broader condition. When it occurs on just one side, it may suggest a different underlying cause than bilateral brachydactyly, such as a localized developmental disruption during pregnancy rather than a genetic mutation affecting the whole body. Treatment, if needed, is generally supportive and may include occupational therapy or, in rare cases, surgical intervention to improve hand function.

Also known as:

Key symptoms:

Shortened fingers on one hand onlyUneven finger length compared to the other handReduced grip strength in the affected handDifficulty with fine motor tasks using the affected handOne or more fingers appearing stubby or shorter than expectedPossible limited range of motion in affected fingers

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, unilateral.

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

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

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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, unilateral.

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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.Is this condition isolated, or could it be part of a broader genetic syndrome?,Should my child have genetic testing to look for an underlying cause?,Will the shortened fingers affect hand function as my child grows?,Would occupational therapy be helpful, and how often should sessions occur?,Are there any surgical options that could improve hand function or appearance?,Since this diagnosis is listed as obsolete, is there a more current diagnosis that applies?,Should other family members be evaluated?

Common questions about OBSOLETE: Brachydactyly of fingers, unilateral

What is OBSOLETE: Brachydactyly of fingers, unilateral?

Brachydactyly of fingers, unilateral, refers to a condition where the fingers on one hand are abnormally short compared to the other hand. The term 'brachydactyly' comes from Greek words meaning 'short fingers.' In this condition, one or more of the small bones (phalanges) or hand bones (metacarpals) in the fingers of only one hand are shorter than normal, while the other hand appears typical. This is notable because most forms of brachydactyly affect both hands equally. It is important to note that this entry has been marked as 'OBSOLETE' in the Orphanet classification system, meaning it is

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

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