Antecubital pterygium syndrome

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ORPHA:2987OMIM:178200Q87.2
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Overview

Antecubital pterygium syndrome is an extremely rare genetic condition that affects the development of the joints, particularly the elbows. The word 'pterygium' refers to a web-like fold of skin that forms across a joint, limiting its movement. In this syndrome, the pterygium (skin webbing) occurs at the antecubital fossa, which is the front of the elbow — the area where your arm bends. This webbing restricts the ability to fully straighten the arm and can significantly limit the range of motion at the elbow joint. People with this condition may also have other skeletal or limb abnormalities, though the hallmark feature is the webbing at the elbow. The severity can vary from person to person. Some individuals may have mild webbing with relatively preserved function, while others may have more significant contractures that affect daily activities like reaching, lifting, and self-care. Because this condition is so rare, there is limited information about its full spectrum of features. Treatment is primarily supportive and may include physical therapy to maintain range of motion, and in some cases, surgical release of the pterygium to improve arm function. There is currently no cure, and management focuses on maximizing function and quality of life. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.

Key symptoms:

Skin webbing across the front of the elbowLimited ability to straighten the armReduced range of motion at the elbowJoint contracturesDifficulty with arm extensionPossible short stature or limb length differencesPossible additional skeletal abnormalities

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 Antecubital pterygium syndrome.

View clinical trials →

No actively recruiting trials found for Antecubital pterygium syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Antecubital pterygium syndrome community →

No specialists are currently listed for Antecubital pterygium 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 Antecubital pterygium 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

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 the pterygium, and how much does it limit my child's arm movement?,Would surgery help improve arm function, and what are the risks?,What physical therapy exercises should we be doing at home?,Is genetic testing recommended for our family?,What is the chance of this condition occurring in future children?,Are there any related conditions we should be screened for?,Will the webbing get worse as my child grows?

Common questions about Antecubital pterygium syndrome

What is Antecubital pterygium syndrome?

Antecubital pterygium syndrome is an extremely rare genetic condition that affects the development of the joints, particularly the elbows. The word 'pterygium' refers to a web-like fold of skin that forms across a joint, limiting its movement. In this syndrome, the pterygium (skin webbing) occurs at the antecubital fossa, which is the front of the elbow — the area where your arm bends. This webbing restricts the ability to fully straighten the arm and can significantly limit the range of motion at the elbow joint. People with this condition may also have other skeletal or limb abnormalities,

How is Antecubital pterygium syndrome inherited?

Antecubital pterygium syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Antecubital pterygium syndrome typically begin?

Typical onset of Antecubital pterygium syndrome is neonatal. Age of onset can vary across affected individuals.