Tall stature-long halluces-multiple extra-epiphyses syndrome

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ORPHA:329191OMIM:615923Q87.3
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Overview

Tall stature-long halluces-multiple extra-epiphyses syndrome is an extremely rare genetic condition that affects how the skeleton grows and develops. The name describes its three main features: being taller than expected for age and family background, unusually long big toes (halluces), and the presence of extra growth centers (called epiphyses) in the bones, particularly in the hands and feet. Epiphyses are the rounded ends of bones where growth occurs during childhood, and having extra ones is unusual and can be seen on X-rays. People with this condition may also have other skeletal differences, such as changes in the shape or proportion of their hands, feet, and other bones. The tall stature is typically noticed during childhood as the child grows faster than peers. The extra epiphyses generally do not cause pain but are an important clue for diagnosis. Because this syndrome is so rare, with very few cases described in the medical literature, the full range of symptoms and the best approaches to management are still being understood. There is currently no cure or specific treatment for this condition. Care focuses on monitoring growth and skeletal development, managing any orthopedic issues that arise, and providing supportive care as needed. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.

Also known as:

Key symptoms:

Tall stature or being taller than expectedUnusually long big toesExtra growth centers (epiphyses) in bones seen on X-rayLong fingers or toesDifferences in hand or foot shapeAdvanced bone age on X-raySkeletal proportional differencesPossible joint flexibility changes

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Tall stature-long halluces-multiple extra-epiphyses syndrome.

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No actively recruiting trials found for Tall stature-long halluces-multiple extra-epiphyses syndrome at this time.

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No specialists are currently listed for Tall stature-long halluces-multiple extra-epiphyses 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 Tall stature-long halluces-multiple extra-epiphyses syndrome.

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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.What specific skeletal features does my child have, and how might they change over time?,Is genetic testing available to confirm the diagnosis or identify the cause?,How often should we have X-rays or growth monitoring done?,Are there any activities or sports my child should avoid?,Should we see an orthopedic specialist or endocrinologist?,What is the chance that future children could have the same condition?,Are there any new research studies or registries we should know about?

Common questions about Tall stature-long halluces-multiple extra-epiphyses syndrome

What is Tall stature-long halluces-multiple extra-epiphyses syndrome?

Tall stature-long halluces-multiple extra-epiphyses syndrome is an extremely rare genetic condition that affects how the skeleton grows and develops. The name describes its three main features: being taller than expected for age and family background, unusually long big toes (halluces), and the presence of extra growth centers (called epiphyses) in the bones, particularly in the hands and feet. Epiphyses are the rounded ends of bones where growth occurs during childhood, and having extra ones is unusual and can be seen on X-rays. People with this condition may also have other skeletal differe

How is Tall stature-long halluces-multiple extra-epiphyses syndrome inherited?

Tall stature-long halluces-multiple extra-epiphyses syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Tall stature-long halluces-multiple extra-epiphyses syndrome typically begin?

Typical onset of Tall stature-long halluces-multiple extra-epiphyses syndrome is childhood. Age of onset can vary across affected individuals.