OBSOLETE: Brachydactyly of toes, unilateral

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ORPHA:295132
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Overview

Brachydactyly of toes, unilateral, is an extremely rare skeletal condition in which the toes on only one foot are abnormally short. The term 'brachydactyly' comes from Greek words meaning 'short fingers or toes,' and 'unilateral' means it affects just one side of the body. In this condition, one or more bones in the toes (called phalanges or metatarsals) are shorter than normal, leading to noticeably shorter toes on one foot while the other foot appears completely normal. This one-sided presentation is what makes it distinct from other forms of brachydactyly, which typically affect both sides of the body. It is important to note that this condition has been classified as 'OBSOLETE' in the Orphanet rare disease database (code 295132), meaning it may have been reclassified, merged with another condition, or no longer recognized as a distinct clinical entity. Patients who were previously given this diagnosis may now fall under a broader category of brachydactyly or isolated skeletal anomalies of the foot. Because this is such a rare and now-obsolete classification, very limited clinical data exists regarding its cause, inheritance, or optimal management. In most cases, brachydactyly of the toes does not cause significant pain or functional problems, though it may affect shoe fitting or walking comfort. Treatment, when needed, is generally supportive and may include custom footwear or, rarely, surgical correction. Patients with this finding should be evaluated by a clinical geneticist to determine whether it is an isolated finding or part of a broader genetic syndrome.

Also known as:

Key symptoms:

Shortened toes on one foot onlyToes that appear stubby or unusually small on one sideAsymmetry between the two feetPossible difficulty fitting shoes on the affected footMild discomfort when walking in some casesCosmetic difference in toe length between feet

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 toes, unilateral.

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No specialists are currently listed for OBSOLETE: Brachydactyly of toes, 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 toes, 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 shortened toe finding isolated, or could it be part of a genetic syndrome?,Should my child have genetic testing to look for an underlying cause?,Will this condition change or get worse as my child grows?,Are there any special shoes or orthotics that could help with comfort?,Is surgery ever recommended, and if so, at what age?,Should we see any other specialists for evaluation?,Are there any activities my child should avoid?

Common questions about OBSOLETE: Brachydactyly of toes, unilateral

What is OBSOLETE: Brachydactyly of toes, unilateral?

Brachydactyly of toes, unilateral, is an extremely rare skeletal condition in which the toes on only one foot are abnormally short. The term 'brachydactyly' comes from Greek words meaning 'short fingers or toes,' and 'unilateral' means it affects just one side of the body. In this condition, one or more bones in the toes (called phalanges or metatarsals) are shorter than normal, leading to noticeably shorter toes on one foot while the other foot appears completely normal. This one-sided presentation is what makes it distinct from other forms of brachydactyly, which typically affect both sides

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

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