OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

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ORPHA:295114
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Overview

Congenital absence or hypoplasia of fingers excluding the thumb, bilateral, is a rare condition present at birth where a baby is born with missing or underdeveloped fingers on both hands, while the thumbs remain normal or relatively unaffected. This condition is classified as a limb malformation. The term 'congenital' means it is present from birth, 'hypoplasia' means the fingers are smaller or less developed than normal, and 'bilateral' means both hands are affected. This condition can range in severity. Some children may have fingers that are shorter than usual but still functional, while others may have fingers that are almost entirely absent. Because the thumbs are spared, many children retain a significant degree of hand function, including the ability to grasp objects. The condition may occur on its own (isolated) or as part of a broader syndrome involving other body systems. Note: This entry is marked as 'OBSOLETE' in the Orphanet classification, meaning it may have been reclassified or merged into a different diagnostic category. Patients and families should work with their medical team to determine the most current and accurate diagnosis. Treatment typically focuses on maximizing hand function through occupational therapy, adaptive devices, and in some cases reconstructive surgery. Early intervention is important to help children develop fine motor skills and independence.

Also known as:

Key symptoms:

Missing fingers on both hands (excluding the thumbs)Underdeveloped or shortened fingers on both handsDifficulty gripping small objectsReduced hand dexterityPossible stiffness in remaining finger jointsDifficulty with fine motor tasks like buttoning clothes or writingAsymmetry in finger length or number between handsPossible nail abnormalities on 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: Congenital absence/hypoplasia of fingers excluding thumb, bilateral.

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No actively recruiting trials found for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral at this time.

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No specialists are currently listed for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral.

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 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Is this condition isolated or could it be part of a broader syndrome?,Should we pursue genetic testing, and what might it tell us?,What surgical options are available to improve hand function?,When should occupational therapy begin, and how often?,Are there prosthetic or adaptive devices that could help my child?,What school accommodations should we request?,Are there other specialists we should see?

Common questions about OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

What is OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral?

Congenital absence or hypoplasia of fingers excluding the thumb, bilateral, is a rare condition present at birth where a baby is born with missing or underdeveloped fingers on both hands, while the thumbs remain normal or relatively unaffected. This condition is classified as a limb malformation. The term 'congenital' means it is present from birth, 'hypoplasia' means the fingers are smaller or less developed than normal, and 'bilateral' means both hands are affected. This condition can range in severity. Some children may have fingers that are shorter than usual but still functional, while o

At what age does OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral typically begin?

Typical onset of OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral is neonatal. Age of onset can vary across affected individuals.