Ectrodactyly with and without other manifestations

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Overview

Ectrodactyly is a rare condition that affects the development of the hands and/or feet. The word 'ectrodactyly' comes from Greek words meaning 'missing fingers.' The most recognizable feature is a split or cleft in the middle of the hand or foot, which can make the hand look like a claw or lobster claw. Because of this appearance, the condition is sometimes called 'split hand/split foot malformation' (SHFM) or informally referred to as 'lobster claw hand.' Some people have only the hand or foot differences, while others may have additional features affecting the eyes, ears, skin, teeth, or urinary tract, depending on the specific form of the condition. Ectrodactyly can range from very mild — such as fused or missing fingers — to more significant differences in hand and foot structure. Some people have the condition in just one limb, while others are affected in all four. The condition is present from birth and is caused by changes in how the limbs develop during pregnancy. It can occur on its own or as part of a broader syndrome, such as EEC syndrome (ectrodactyly, ectodermal dysplasia, and clefting). Treatment focuses on improving hand and foot function through surgery, physical therapy, and assistive devices. Many people with ectrodactyly lead full, independent lives with appropriate support.

Key symptoms:

Split or cleft in the middle of the hand or foot (the most common feature)Missing fingers or toesFused fingers or toes (syndactyly)Abnormally short or absent bones in the hands or feetDifferences in only one limb or all four limbsCleft lip or cleft palate (in some syndromic forms)Hearing loss (in some syndromic forms)Vision problems or tear duct abnormalities (in some syndromic forms)Skin, hair, or nail differences (in ectodermal dysplasia-related forms)Dental abnormalities such as missing or malformed teeth (in some forms)Urinary tract differences (in some syndromic forms)

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Ectrodactyly with and without other manifestations.

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No actively recruiting trials found for Ectrodactyly with and without other manifestations at this time.

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No specialists are currently listed for Ectrodactyly with and without other manifestations.

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 Ectrodactyly with and without other manifestations.

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Community

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Latest news about Ectrodactyly with and without other manifestations

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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 form of ectrodactyly does my child have, and is it part of a broader syndrome?,What genetic testing should we do, and what will the results tell us about other family members?,What surgeries might be recommended, and at what age should they happen?,What therapies will help my child develop the best possible hand and foot function?,Are there other body systems we should monitor, such as hearing, vision, or the urinary tract?,What are the chances that other children we have could be affected?,Are there patient support groups or resources you recommend for families dealing with this condition?

Common questions about Ectrodactyly with and without other manifestations

What is Ectrodactyly with and without other manifestations?

Ectrodactyly is a rare condition that affects the development of the hands and/or feet. The word 'ectrodactyly' comes from Greek words meaning 'missing fingers.' The most recognizable feature is a split or cleft in the middle of the hand or foot, which can make the hand look like a claw or lobster claw. Because of this appearance, the condition is sometimes called 'split hand/split foot malformation' (SHFM) or informally referred to as 'lobster claw hand.' Some people have only the hand or foot differences, while others may have additional features affecting the eyes, ears, skin, teeth, or uri

At what age does Ectrodactyly with and without other manifestations typically begin?

Typical onset of Ectrodactyly with and without other manifestations is neonatal. Age of onset can vary across affected individuals.