Overview
Split hand-split foot-deafness syndrome (also called SHFM with sensorineural hearing loss, or ectrodactyly with hearing loss) is a rare inherited condition that affects the development of the hands, feet, and hearing. The name describes the two main features: a distinctive hand and foot shape where the middle fingers or toes may be missing or fused, creating a 'lobster claw' or split appearance, and significant hearing loss that is present from birth or early childhood. The hand and foot differences happen because the bones and tissues in the center of the hands and feet do not form properly during pregnancy. This can range from mild differences, like missing or fused fingers, to more noticeable changes in the shape of the hand or foot. The hearing loss is sensorineural, meaning it comes from damage to the inner ear or the nerve that carries sound to the brain, rather than a blockage in the ear canal. There is currently no cure for this syndrome. Treatment focuses on managing the symptoms. Children may benefit from hand and foot surgery to improve function, hearing aids or cochlear implants to help with hearing, and speech therapy. With the right support, many people with this condition can lead full and active lives. Early diagnosis is important so that children can get the help they need as soon as possible.
Also known as:
Key symptoms:
Missing or fused fingers or toes, giving the hand or foot a split or 'lobster claw' appearanceSensorineural hearing loss (damage to the inner ear or hearing nerve) present from birth or early childhoodDifferences in the number or shape of fingers and toesDifficulty gripping objects due to hand differencesDifficulty walking or wearing standard footwear due to foot differencesDelayed speech development linked to hearing lossProblems with balance related to inner ear involvement
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 Split hand-split foot-deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Split hand-split foot-deafness 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 Split hand-split foot-deafness syndrome.
Community
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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.Which specific gene change is causing this condition in my child, and what does that mean for other family members?,What surgical options are available for the hand and foot differences, and when is the best time to consider them?,Is my child a candidate for a cochlear implant, or will hearing aids be sufficient?,What early therapies — such as speech or occupational therapy — should we start right away?,What school accommodations should we request, and can you provide documentation to support those requests?,Are there other family members who should be tested for this condition?,Are there any clinical trials or research studies we should know about?
Common questions about Split hand-split foot-deafness syndrome
What is Split hand-split foot-deafness syndrome?
Split hand-split foot-deafness syndrome (also called SHFM with sensorineural hearing loss, or ectrodactyly with hearing loss) is a rare inherited condition that affects the development of the hands, feet, and hearing. The name describes the two main features: a distinctive hand and foot shape where the middle fingers or toes may be missing or fused, creating a 'lobster claw' or split appearance, and significant hearing loss that is present from birth or early childhood. The hand and foot differences happen because the bones and tissues in the center of the hands and feet do not form properly
How is Split hand-split foot-deafness syndrome inherited?
Split hand-split foot-deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Split hand-split foot-deafness syndrome typically begin?
Typical onset of Split hand-split foot-deafness syndrome is neonatal. Age of onset can vary across affected individuals.