Short fifth metacarpals-insulin resistance syndrome

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Overview

Short fifth metacarpals-insulin resistance syndrome is a very rare condition that affects the bones of the hands and the way the body handles sugar. The fifth metacarpal is the bone in your hand that connects to your little finger. In people with this syndrome, that bone is unusually short on both hands, which can make the little finger look shorter or the knuckle less prominent. This is sometimes called 'brachymetacarpia' of the fifth ray. Alongside this bone difference, people with this condition develop insulin resistance, meaning the body's cells do not respond well to insulin — the hormone that controls blood sugar levels. Over time, this can lead to high blood sugar and may increase the risk of developing type 2 diabetes. Some people may also show other features related to abnormal bone development or hormonal changes. The condition is thought to be genetic in origin, though the exact gene or genes responsible are not fully confirmed in all cases. Treatment focuses on managing insulin resistance through lifestyle changes, diet, and sometimes medication to help control blood sugar. Regular monitoring by a specialist team is important to prevent complications. Because this syndrome is so rare, much of what is known comes from small numbers of reported cases.

Key symptoms:

Unusually short bone in the hand leading to a shorter little fingerInsulin resistance (the body does not use insulin properly)High blood sugar levelsRisk of developing type 2 diabetesPossible changes in other small bones of the hands or feetAbnormal knuckle appearance on the little finger side of the handPossible hormonal imbalancesFatigue related to blood sugar problemsIncreased thirst or frequent urination if blood sugar is poorly controlled

Clinical phenotype terms (6)— hover any for plain English
SpherocytosisHP:0004444Short 5th metacarpalHP:0010047Nasal congestionHP:0001742
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Short fifth metacarpals-insulin resistance syndrome.

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No actively recruiting trials found for Short fifth metacarpals-insulin resistance syndrome at this time.

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No specialists are currently listed for Short fifth metacarpals-insulin resistance syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Short fifth metacarpals-insulin resistance syndrome.

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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 genetic tests should I have to find out the cause of my condition?,How often should I have my blood sugar and insulin levels checked?,What lifestyle changes will make the biggest difference for my insulin resistance?,At what point would you recommend starting medication for blood sugar control?,Are other members of my family at risk, and should they be tested?,Are there any specialists or rare disease centers with experience in this condition?,What warning signs should prompt me to seek urgent medical care?

Common questions about Short fifth metacarpals-insulin resistance syndrome

What is Short fifth metacarpals-insulin resistance syndrome?

Short fifth metacarpals-insulin resistance syndrome is a very rare condition that affects the bones of the hands and the way the body handles sugar. The fifth metacarpal is the bone in your hand that connects to your little finger. In people with this syndrome, that bone is unusually short on both hands, which can make the little finger look shorter or the knuckle less prominent. This is sometimes called 'brachymetacarpia' of the fifth ray. Alongside this bone difference, people with this condition develop insulin resistance, meaning the body's cells do not respond well to insulin — the hormon

At what age does Short fifth metacarpals-insulin resistance syndrome typically begin?

Typical onset of Short fifth metacarpals-insulin resistance syndrome is childhood. Age of onset can vary across affected individuals.