Overview
Sugarman brachydactyly is a very rare inherited condition that mainly affects the development of the fingers and toes. The name comes from the Greek word 'brachy' meaning short, and 'dactyly' meaning fingers or toes. People with this condition are born with unusually short fingers and toes because some of the small bones inside them (called phalanges) are either very small or fused together. This is sometimes also called brachydactyly type E2 or Sugarman syndrome in older medical literature, though naming can vary between sources. The condition is present from birth and is caused by changes (mutations) in a specific gene that guides how bones form during fetal development. Beyond the hands and feet, some individuals may also have short stature and subtle facial features, though the short digits are the most noticeable sign. The condition does not typically affect intelligence or lifespan. Because Sugarman brachydactyly is so rare, treatment is focused on managing symptoms rather than curing the underlying cause. Orthopedic care, occupational therapy, and physical therapy can help people adapt and maintain good hand function. Surgery is occasionally considered in specific cases to improve function or appearance. Most people with this condition live full, independent lives with appropriate support.
Also known as:
Key symptoms:
Unusually short fingersUnusually short toesFused or missing small bones in the fingers or toesShort overall statureBroad or stubby fingertipsLimited range of motion in the fingersSubtle differences in facial appearance in some individuals
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 Sugarman brachydactyly.
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Specialists
View all specialists →No specialists are currently listed for Sugarman brachydactyly.
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 Sugarman brachydactyly.
Community
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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.Which specific bones in my child's hands and feet are affected, and how will this change as they grow?,Should we see a hand surgeon, and if so, when would surgery be most beneficial?,What type of occupational therapy would help most, and how often should we go?,Since this condition is genetic, what is the chance that other family members or future children could be affected?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to come back sooner between scheduled appointments?,Are there any patient communities or support groups for families dealing with brachydactyly conditions?
Common questions about Sugarman brachydactyly
What is Sugarman brachydactyly?
Sugarman brachydactyly is a very rare inherited condition that mainly affects the development of the fingers and toes. The name comes from the Greek word 'brachy' meaning short, and 'dactyly' meaning fingers or toes. People with this condition are born with unusually short fingers and toes because some of the small bones inside them (called phalanges) are either very small or fused together. This is sometimes also called brachydactyly type E2 or Sugarman syndrome in older medical literature, though naming can vary between sources. The condition is present from birth and is caused by changes (
How is Sugarman brachydactyly inherited?
Sugarman brachydactyly follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sugarman brachydactyly typically begin?
Typical onset of Sugarman brachydactyly is neonatal. Age of onset can vary across affected individuals.