Living with Telecanthus-hypertelorism-strabismus-pes cavus syndrome
A rare genetic condition with wide-set eyes, crossed eyes, high-arched feet, and other variable differences.
Understanding Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Telecanthus means a wider space between the inner eye corners, and hypertelorism means wide-set eyes. Strabismus means crossed or misaligned eyes, and pes cavus means high-arched feet. Some people also have hypospadias, groin hernias, and bent or curved fingers. X-rays may show wider bone ends and thin bones. Signs are seen in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms in a separate list. The summary describes:
- Wide space between inner eye corners
- Wide-set eyes
- Crossed eyes (strabismus)
- High-arched feet (pes cavus)
- Groin hernias
- Bent or curved fingers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (variants) cause this condition. GARD doesn't list which gene or how it is inherited.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Telecanthus-hypertelorism-strabismus-pes cavus syndrome.
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