Living with Ataxia-photosensitivity-short stature syndrome
A rare genetic syndrome with balance problems, sun sensitivity, short stature, and intellectual disability.
Understanding Ataxia-photosensitivity-short stature syndrome
The ataxia looks like a problem in the cerebellum, the part of the brain that coordinates movement. Sun sensitivity mainly affects the face and trunk. Other features can include a curved pinkie finger, a single crease across the palm, a high palate, enlarged calves, and heart valve differences. It begins in infancy and childhood. GARD notes there have been no further descriptions in the medical literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Sensitivity to sunlight (photosensitivity)
- Short stature
- Intellectual disability
- Crossed eyes (strabismus)
- Dry skin and hives
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- 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 National Ataxia Foundation
- 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
GARD says changes in genes (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: ataxia, photosensitivity, short stature syndrome; fenton wilkinson toselano syndrome; fenton-wilkinson-toselano syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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 Ataxia-photosensitivity-short stature syndrome.
Explore research for Ataxia-photosensitivity-short stature syndrome
Explore actively recruiting Ataxia-photosensitivity-short stature syndrome studies with HealthSpark.
Find actively recruiting studies for Ataxia-photosensitivity-short stature syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Ataxia-photosensitivity-short stature syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Ataxia-photosensitivity-short stature syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Ataxia-photosensitivity-short stature syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.