Overview
Brachydactyly-preaxial hallux varus syndrome is an extremely rare inherited condition that affects the development of the hands and feet. The name describes its two main features: brachydactyly, which means abnormally short fingers and toes, and preaxial hallux varus, which means the big toe is angled away from the other toes (pointing inward or toward the midline of the body). This condition is present from birth and is caused by differences in how the bones of the hands and feet develop during pregnancy. People with this syndrome typically have shortened fingers, particularly affecting certain bones in the hand (the middle bones, called phalanges), along with the characteristic deviation of the big toe. The severity can vary from person to person, even within the same family. Some individuals may have mild shortening of fingers that barely affects hand function, while others may have more noticeable differences. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving function. Orthopedic interventions, including surgery, may be considered for the hallux varus if it causes pain or difficulty with walking and wearing shoes. Occupational therapy may help with hand function if brachydactyly affects grip or fine motor skills. Overall, this condition primarily affects the structure of the hands and feet and does not typically involve other organ systems or affect life expectancy.
Key symptoms:
Abnormally short fingersAbnormally short toesBig toe angled away from the other toes (hallux varus)Shortened middle bones of the fingersShortened middle bones of the toesPossible difficulty with fine motor tasks due to short fingersPossible difficulty fitting into standard shoesAbnormal appearance of hands and feet from birth
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Brachydactyly-preaxial hallux varus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Brachydactyly-preaxial hallux varus syndrome.
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 Brachydactyly-preaxial hallux varus syndrome.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the brachydactyly and hallux varus in my child, and will it get worse with growth?,Will my child need surgery to correct the big toe alignment?,Should we start occupational therapy to help with hand function?,What type of shoes or orthotics would be best for my child?,Is genetic testing available to confirm the diagnosis and help with family planning?,What is the chance that future children will also have this condition?,Are there any activities or sports my child should avoid?
Common questions about Brachydactyly-preaxial hallux varus syndrome
What is Brachydactyly-preaxial hallux varus syndrome?
Brachydactyly-preaxial hallux varus syndrome is an extremely rare inherited condition that affects the development of the hands and feet. The name describes its two main features: brachydactyly, which means abnormally short fingers and toes, and preaxial hallux varus, which means the big toe is angled away from the other toes (pointing inward or toward the midline of the body). This condition is present from birth and is caused by differences in how the bones of the hands and feet develop during pregnancy. People with this syndrome typically have shortened fingers, particularly affecting cert
How is Brachydactyly-preaxial hallux varus syndrome inherited?
Brachydactyly-preaxial hallux varus syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Brachydactyly-preaxial hallux varus syndrome typically begin?
Typical onset of Brachydactyly-preaxial hallux varus syndrome is neonatal. Age of onset can vary across affected individuals.