Overview
Congenital absence or hypoplasia of fingers excluding the thumb is a rare condition present at birth where one or more fingers (not including the thumb) are either missing entirely or underdeveloped (smaller than normal). This condition is classified as a limb malformation and can affect one or both hands. The severity varies widely — some children may be missing just one finger, while others may have several fingers that are short, thin, or absent. This condition may occur on its own (isolated) or as part of a broader syndrome that affects other parts of the body. Note: This Orphanet entry is marked as 'OBSOLETE,' meaning it has been retired or reclassified in the Orphanet database. The condition may now be categorized under more specific or updated diagnostic terms, such as specific types of brachydactyly, ectrodactyly, or symbrachydactyly. Patients and families should work with their medical team to identify the most current and accurate diagnosis. The impact on daily life depends on how many fingers are affected and how severely. Many children adapt remarkably well, especially with early occupational therapy. Surgical options, including reconstructive hand surgery and sometimes toe-to-hand transfers, may be considered to improve hand function. Prosthetic devices can also help. Treatment is tailored to each child's specific needs and functional goals.
Key symptoms:
One or more fingers missing at birth (not the thumb)Fingers that are shorter than normalFingers that are thinner or underdevelopedReduced grip strength in the affected handDifficulty grasping small objectsStiffness in affected finger jointsDifferences in hand appearance between left and right sidesPossible webbing between remaining fingersNail abnormalities on affected fingers
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA 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.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb.
Start the conversation →Latest news about OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
No recent news articles for OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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 my child's condition isolated, or could it be part of a broader syndrome?,Should we pursue genetic testing to look for an underlying cause?,What surgical options might improve my child's hand function, and when is the best time for surgery?,How often should my child see an occupational therapist?,Would a prosthetic device be helpful for my child?,Are there any activities my child should avoid, or can they participate in everything?,What updated diagnosis term should we use now that this classification is obsolete?
Common questions about OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
What is OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb?
Congenital absence or hypoplasia of fingers excluding the thumb is a rare condition present at birth where one or more fingers (not including the thumb) are either missing entirely or underdeveloped (smaller than normal). This condition is classified as a limb malformation and can affect one or both hands. The severity varies widely — some children may be missing just one finger, while others may have several fingers that are short, thin, or absent. This condition may occur on its own (isolated) or as part of a broader syndrome that affects other parts of the body. Note: This Orphanet entry i
At what age does OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb typically begin?
Typical onset of OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb is neonatal. Age of onset can vary across affected individuals.