Overview
Mesoaxial synostotic syndactyly with phalangeal reduction is an extremely rare condition that affects the development of the hands and sometimes the feet before birth. In this condition, certain fingers (typically the middle fingers or central digits) are fused together — a feature called syndactyly. The term 'synostotic' means that the bones themselves are fused, not just the skin and soft tissue. Additionally, some of the small bones in the fingers (called phalanges) may be missing or reduced in number, which is referred to as phalangeal reduction. The word 'mesoaxial' refers to the central part of the hand being primarily affected, as opposed to the thumb side or pinky side. This condition is present at birth and is usually noticed immediately by the appearance of the hands. The severity can vary, with some individuals having mild fusion and others having more significant bone involvement. Because this is such a rare condition, the treatment approach is highly individualized. Surgery may be considered to separate fused fingers and improve hand function. Occupational therapy can help children learn to use their hands effectively. There is no cure that addresses the underlying cause, but surgical and therapeutic interventions can significantly improve quality of life and hand function. Genetic counseling is recommended for affected families to understand the chance of the condition occurring in future children.
Also known as:
Key symptoms:
Fingers fused together (syndactyly), especially the central fingersBones of the fingers joined together (bony fusion)Missing or shortened finger bonesReduced number of finger segmentsAbnormal appearance of the handsPossible reduced grip strengthDifficulty with fine motor tasks like grasping small objectsPossible involvement of the toes in some cases
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mesoaxial synostotic syndactyly with phalangeal reduction.
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Specialists
View all specialists →No specialists are currently listed for Mesoaxial synostotic syndactyly with phalangeal reduction.
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 Mesoaxial synostotic syndactyly with phalangeal reduction.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How severe is the bone fusion in my child's hands, and which fingers are most affected?,Is surgery recommended, and if so, at what age should it be done?,What improvements in hand function can we realistically expect after surgery?,Should we start occupational therapy now, and how often?,Is genetic testing recommended for our family, and what would the results mean for future pregnancies?,Are there any other parts of the body we should check for related problems?,Can you refer us to a hand surgeon who has experience with complex syndactyly?
Common questions about Mesoaxial synostotic syndactyly with phalangeal reduction
What is Mesoaxial synostotic syndactyly with phalangeal reduction?
Mesoaxial synostotic syndactyly with phalangeal reduction is an extremely rare condition that affects the development of the hands and sometimes the feet before birth. In this condition, certain fingers (typically the middle fingers or central digits) are fused together — a feature called syndactyly. The term 'synostotic' means that the bones themselves are fused, not just the skin and soft tissue. Additionally, some of the small bones in the fingers (called phalanges) may be missing or reduced in number, which is referred to as phalangeal reduction. The word 'mesoaxial' refers to the central
How is Mesoaxial synostotic syndactyly with phalangeal reduction inherited?
Mesoaxial synostotic syndactyly with phalangeal reduction follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mesoaxial synostotic syndactyly with phalangeal reduction typically begin?
Typical onset of Mesoaxial synostotic syndactyly with phalangeal reduction is neonatal. Age of onset can vary across affected individuals.