Reunion Island Larsen-like syndrome

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ORPHA:294049
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Overview

Reunion Island Larsen-like syndrome is an extremely rare genetic condition first described in families from Reunion Island, a French overseas territory in the Indian Ocean. This syndrome shares features with classic Larsen syndrome but has distinct characteristics that set it apart. It primarily affects the skeletal system and connective tissues of the body. People with this condition typically have joint hypermobility (unusually loose and flexible joints), multiple joint dislocations that may be present at birth, and distinctive facial features. Skeletal abnormalities can include short stature, flat facial appearance, and abnormalities of the spine. The condition may also involve hearing loss and other developmental concerns. Because this syndrome is so rare, the treatment landscape is limited and mainly focuses on managing symptoms. Orthopedic care is often needed to address joint dislocations and skeletal problems. Physical therapy can help strengthen muscles around loose joints. Surgery may be required for severe joint or spinal issues. There is currently no cure or disease-specific therapy available. Management requires a team of specialists working together to address the various body systems that may be affected.

Also known as:

Key symptoms:

Joint hypermobility (unusually loose joints)Multiple joint dislocations present at birthFlat facial appearanceShort statureSpinal abnormalitiesProminent foreheadWide-set eyesDepressed nasal bridge (flat nose bridge)Hearing lossClubfoot or foot deformitiesDelayed motor developmentAbnormal shape of the bones

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Reunion Island Larsen-like syndrome.

View clinical trials →

No actively recruiting trials found for Reunion Island Larsen-like syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Reunion Island Larsen-like syndrome community →

No specialists are currently listed for Reunion Island Larsen-like 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 Reunion Island Larsen-like syndrome.

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Community

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Latest news about Reunion Island Larsen-like syndrome

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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.How severe is my child's condition compared to other known cases?,What joint protection strategies should we follow in daily life?,How often should we schedule orthopedic and hearing check-ups?,Are there specific physical activities that are safe or should be avoided?,Should we pursue genetic testing, and what might it tell us?,What signs of complications should prompt an urgent visit?,Are there any research studies or registries we should consider joining?

Common questions about Reunion Island Larsen-like syndrome

What is Reunion Island Larsen-like syndrome?

Reunion Island Larsen-like syndrome is an extremely rare genetic condition first described in families from Reunion Island, a French overseas territory in the Indian Ocean. This syndrome shares features with classic Larsen syndrome but has distinct characteristics that set it apart. It primarily affects the skeletal system and connective tissues of the body. People with this condition typically have joint hypermobility (unusually loose and flexible joints), multiple joint dislocations that may be present at birth, and distinctive facial features. Skeletal abnormalities can include short statu

How is Reunion Island Larsen-like syndrome inherited?

Reunion Island Larsen-like syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Reunion Island Larsen-like syndrome typically begin?

Typical onset of Reunion Island Larsen-like syndrome is neonatal. Age of onset can vary across affected individuals.