Telecanthus-hypertelorism-strabismus-pes cavus syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:3293Q87.8
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Telecanthus-hypertelorism-strabismus-pes cavus syndrome is an extremely rare genetic condition that affects several parts of the body. The name describes its main features: telecanthus means the inner corners of the eyes are spaced farther apart than usual; hypertelorism means the eyes themselves are widely spaced; strabismus refers to crossed eyes or eyes that do not align properly; and pes cavus describes an unusually high arch of the foot. Together, these features create a recognizable pattern that doctors can identify, usually from birth or early childhood. People with this syndrome may notice that their facial appearance is somewhat distinctive due to the wide spacing of the eyes, and they may have difficulty with vision because of the eye misalignment. The high-arched feet can sometimes cause problems with walking, balance, or foot pain. Some affected individuals may also have additional minor physical differences. Because this condition is so rare, there is very limited information about it in the medical literature. Treatment is generally focused on managing individual symptoms. For example, strabismus may be treated with glasses, patching, or surgery. Foot problems from pes cavus can be addressed with special shoes, orthotics, or in some cases surgery. Regular follow-up with appropriate specialists is important to monitor and address symptoms as they arise. There is currently no cure or disease-specific therapy available.

Key symptoms:

Widely spaced inner corners of the eyes (telecanthus)Eyes set far apart (hypertelorism)Crossed eyes or misaligned eyes (strabismus)High arches of the feet (pes cavus)Difficulty with balance or walking due to foot shapeFoot pain or discomfortDistinctive facial appearancePossible vision problems due to eye misalignment

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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Telecanthus-hypertelorism-strabismus-pes cavus syndrome.

View clinical trials →

No actively recruiting trials found for Telecanthus-hypertelorism-strabismus-pes cavus syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Telecanthus-hypertelorism-strabismus-pes cavus syndrome community →

No specialists are currently listed for Telecanthus-hypertelorism-strabismus-pes cavus 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 Telecanthus-hypertelorism-strabismus-pes cavus syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Telecanthus-hypertelorism-strabismus-pes cavus syndromeForum →

No community posts yet. Be the first to share your experience with Telecanthus-hypertelorism-strabismus-pes cavus syndrome.

Start the conversation →

Latest news about Telecanthus-hypertelorism-strabismus-pes cavus syndrome

No recent news articles for Telecanthus-hypertelorism-strabismus-pes cavus syndrome.

Follow this condition to be notified when news becomes available.

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 my child's strabismus, and what treatment options do you recommend?,Should we consider surgery for the eye misalignment, and if so, when is the best time?,What can we do to manage the high arches in the feet and prevent pain?,Is genetic testing available that could help confirm the diagnosis or identify the cause?,What is the risk of passing this condition to future children?,How often should we schedule follow-up visits with the eye doctor and orthopedic specialist?,Are there any other health problems we should watch for as my child grows?

Common questions about Telecanthus-hypertelorism-strabismus-pes cavus syndrome

What is Telecanthus-hypertelorism-strabismus-pes cavus syndrome?

Telecanthus-hypertelorism-strabismus-pes cavus syndrome is an extremely rare genetic condition that affects several parts of the body. The name describes its main features: telecanthus means the inner corners of the eyes are spaced farther apart than usual; hypertelorism means the eyes themselves are widely spaced; strabismus refers to crossed eyes or eyes that do not align properly; and pes cavus describes an unusually high arch of the foot. Together, these features create a recognizable pattern that doctors can identify, usually from birth or early childhood. People with this syndrome may n

How is Telecanthus-hypertelorism-strabismus-pes cavus syndrome inherited?

Telecanthus-hypertelorism-strabismus-pes cavus syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Telecanthus-hypertelorism-strabismus-pes cavus syndrome typically begin?

Typical onset of Telecanthus-hypertelorism-strabismus-pes cavus syndrome is neonatal. Age of onset can vary across affected individuals.