Syndactyly-polydactyly-ear lobe syndrome

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ORPHA:3259OMIM:186350Q74.8
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Overview

Syndactyly-polydactyly-ear lobe syndrome is an extremely rare genetic condition that affects the development of the hands, feet, and ears. The name describes its three main features: syndactyly (webbing or fusion of fingers or toes), polydactyly (extra fingers or toes), and distinctive ear lobe abnormalities. This condition is present at birth and is caused by differences in how the limbs and ears develop during pregnancy. People with this syndrome may have varying degrees of finger or toe fusion, which can range from mild skin webbing between digits to more complete bony fusion. The extra digits may appear on the hands, feet, or both, and can vary in size and function. The ear lobes may appear unusually shaped, thickened, or creased. These features can differ significantly even among members of the same family. Because this condition is so rare, there is limited published medical literature about it. Treatment is primarily surgical and supportive, focusing on improving hand and foot function when syndactyly or polydactyly interferes with daily activities. Surgical correction of extra digits or separated fused fingers can often be performed in early childhood. The ear lobe differences are generally cosmetic and may not require treatment unless desired. Overall, individuals with this syndrome can expect a normal lifespan, and outcomes depend largely on the severity of the limb differences and the success of any corrective procedures.

Key symptoms:

Webbed or fused fingersWebbed or fused toesExtra fingers on one or both handsExtra toes on one or both feetAbnormally shaped ear lobesThickened or creased ear lobesDifficulty with fine motor skills due to fused fingersDifferences in hand or foot appearance

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 Syndactyly-polydactyly-ear lobe syndrome.

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No actively recruiting trials found for Syndactyly-polydactyly-ear lobe syndrome at this time.

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No specialists are currently listed for Syndactyly-polydactyly-ear lobe 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 Syndactyly-polydactyly-ear lobe syndrome.

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Community

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Caregiver Resources

NORD 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 is the syndactyly and polydactyly, and does it involve bone or just soft tissue?,When is the best time to perform corrective surgery on my child's hands or feet?,What are the expected outcomes and risks of surgery?,Will my child need occupational therapy or physical therapy after surgery?,Is genetic testing available to confirm the diagnosis or identify the cause?,What is the chance of passing this condition to future children?,Are there any other health concerns we should monitor for with this syndrome?

Common questions about Syndactyly-polydactyly-ear lobe syndrome

What is Syndactyly-polydactyly-ear lobe syndrome?

Syndactyly-polydactyly-ear lobe syndrome is an extremely rare genetic condition that affects the development of the hands, feet, and ears. The name describes its three main features: syndactyly (webbing or fusion of fingers or toes), polydactyly (extra fingers or toes), and distinctive ear lobe abnormalities. This condition is present at birth and is caused by differences in how the limbs and ears develop during pregnancy. People with this syndrome may have varying degrees of finger or toe fusion, which can range from mild skin webbing between digits to more complete bony fusion. The extra di

How is Syndactyly-polydactyly-ear lobe syndrome inherited?

Syndactyly-polydactyly-ear lobe syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Syndactyly-polydactyly-ear lobe syndrome typically begin?

Typical onset of Syndactyly-polydactyly-ear lobe syndrome is neonatal. Age of onset can vary across affected individuals.