Split-foot malformation-mesoaxial polydactyly syndrome

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ORPHA:488232OMIM:616890Q74.8
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Overview

Split-foot malformation with mesoaxial polydactyly syndrome is a very rare condition present from birth that affects the development of the hands and feet. The name describes the two main features: 'split-foot' (also called ectrodactyly) means the foot has a deep cleft or gap in the middle, giving it a claw-like appearance, and 'mesoaxial polydactyly' means there are extra fingers or toes located in the central part of the hand or foot. Together, these features affect how the limbs look and function. The condition may affect the feet, hands, or both. This syndrome is considered a limb malformation disorder. The bones and soft tissues of the affected hands and feet form differently during early pregnancy, leading to the unusual structure seen at birth. Some people with this condition may have only mild differences, while others may have more significant changes that affect how they walk or use their hands. There are no internal organ problems typically associated with this specific syndrome. Treatment focuses on improving function and appearance through surgery, physical therapy, and the use of special footwear or orthotics. With the right support, many people with this condition can lead full and active lives. Early evaluation by a specialist team is important to plan the best care.

Also known as:

Key symptoms:

Deep cleft or split in the middle of one or both feetExtra toes located in the central part of the footUnusual foot shape that may look like a claw or lobster clawMissing or fused toesSimilar cleft or extra fingers on the hands in some casesDifficulty walking due to abnormal foot structureAbnormal gait or walking patternPossible need for specially fitted shoes or orthotics

Clinical phenotype terms (13)— hover any for plain English
Second ray metatarsophalangeal synostosisHP:0100483Split footHP:0001839Bilateral sensorineural hearing impairmentHP:00086194-5 toe syndactylyHP:00046921-2 toe complete cutaneous syndactylyHP:0005767Aplasia/Hypoplasia of the distal phalanx of the halluxHP:0010076Mesoaxial foot polydactylyHP:0010112Aplasia/Hypoplasia of the phalanges of the 3rd toeHP:0010359Aplasia/Hypoplasia of the phalanges of the 4th toeHP:0010371Aplasia/Hypoplasia of the phalanges of the 5th toeHP:0010383Aplasia/Hypoplasia of the distal phalanx of the 2nd toeHP:00104131-2 toe syndactylyHP:0010711
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Split-foot malformation-mesoaxial polydactyly syndrome.

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No actively recruiting trials found for Split-foot malformation-mesoaxial polydactyly syndrome at this time.

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No specialists are currently listed for Split-foot malformation-mesoaxial polydactyly 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 Split-foot malformation-mesoaxial polydactyly 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 is the best timing for surgery, and how many procedures might my child need?,Should we do genetic testing, and what gene or genes should be tested?,What are the chances that other family members or future children could be affected?,What type of footwear or orthotics will help most with walking?,Are there any long-term complications we should watch for as my child grows?,What physical or occupational therapy is recommended, and how often?,Are there any clinical trials or research studies we could participate in?

Common questions about Split-foot malformation-mesoaxial polydactyly syndrome

What is Split-foot malformation-mesoaxial polydactyly syndrome?

Split-foot malformation with mesoaxial polydactyly syndrome is a very rare condition present from birth that affects the development of the hands and feet. The name describes the two main features: 'split-foot' (also called ectrodactyly) means the foot has a deep cleft or gap in the middle, giving it a claw-like appearance, and 'mesoaxial polydactyly' means there are extra fingers or toes located in the central part of the hand or foot. Together, these features affect how the limbs look and function. The condition may affect the feet, hands, or both. This syndrome is considered a limb malform

How is Split-foot malformation-mesoaxial polydactyly syndrome inherited?

Split-foot malformation-mesoaxial polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Split-foot malformation-mesoaxial polydactyly syndrome typically begin?

Typical onset of Split-foot malformation-mesoaxial polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.