Hallux varus-preaxial polysyndactyly syndrome

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ORPHA:2110OMIM:234280Q74.2
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Overview

Hallux varus-preaxial polysyndactyly syndrome is an extremely rare genetic condition that affects the development of the hands and feet. The name describes its main features: hallux varus means the big toe is angled away from the other toes (pointing inward), preaxial polydactyly means there are extra fingers or toes on the thumb or big toe side of the hands or feet, and syndactyly means some fingers or toes are fused or webbed together. These abnormalities are present at birth and can affect one or both sides of the body. Because this condition is so rare, only a small number of families have been described in the medical literature. The skeletal differences in the hands and feet can range from mild to more noticeable, and the severity can vary even among members of the same family. Importantly, this condition primarily affects the limbs and does not typically cause problems with thinking, learning, or internal organs. Treatment is mainly surgical and supportive. Orthopedic surgeons and hand or foot specialists can correct the extra digits, separate fused fingers or toes, and improve the alignment of the big toe. Physical therapy and occupational therapy may also help with hand function and mobility after surgery. Early evaluation by a clinical geneticist is recommended to confirm the diagnosis and provide genetic counseling to the family.

Also known as:

Key symptoms:

Big toe angled inward (away from other toes)Extra fingers or toes on the thumb or big toe sideWebbed or fused fingers or toesAbnormal shape or alignment of the big toeBroad or duplicated thumbsFoot deformity affecting walking or shoe fittingAsymmetric involvement of hands or feetShort or abnormally shaped bones in the fingers or toes

Clinical phenotype terms (2)— hover any for plain English
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 Hallux varus-preaxial polysyndactyly syndrome.

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No actively recruiting trials found for Hallux varus-preaxial polysyndactyly syndrome at this time.

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No specialists are currently listed for Hallux varus-preaxial polysyndactyly 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 Hallux varus-preaxial polysyndactyly syndrome.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe are my child's hand and foot differences, and what surgeries are recommended?,At what age should surgery be performed for the best outcome?,Will my child need more than one surgery as they grow?,What physical or occupational therapy will be needed after surgery?,Is genetic testing available to confirm the diagnosis and help with family planning?,What is the chance that future children could also be affected?,Are there any other health problems we should watch for with this condition?

Common questions about Hallux varus-preaxial polysyndactyly syndrome

What is Hallux varus-preaxial polysyndactyly syndrome?

Hallux varus-preaxial polysyndactyly syndrome is an extremely rare genetic condition that affects the development of the hands and feet. The name describes its main features: hallux varus means the big toe is angled away from the other toes (pointing inward), preaxial polydactyly means there are extra fingers or toes on the thumb or big toe side of the hands or feet, and syndactyly means some fingers or toes are fused or webbed together. These abnormalities are present at birth and can affect one or both sides of the body. Because this condition is so rare, only a small number of families hav

How is Hallux varus-preaxial polysyndactyly syndrome inherited?

Hallux varus-preaxial polysyndactyly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hallux varus-preaxial polysyndactyly syndrome typically begin?

Typical onset of Hallux varus-preaxial polysyndactyly syndrome is neonatal. Age of onset can vary across affected individuals.