Living with Van den Bosch syndrome
A very rare X-linked condition affecting learning, eyes, skin, and sweating, with no new reports since 1959.
Understanding Van den Bosch syndrome
GARD lists intellectual disability, choroideremia (a progressive eye condition), quick eye movements, severe nearsightedness, a skin difference, lack of sweating, and winging of the shoulder blades. GARD notes there have been no further descriptions in medical writing since 1959.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Intellectual disability
- Eye condition (choroideremia)
- Quick, side-to-side eye movements (nystagmus)
- Severe nearsightedness (myopia)
- Lack of sweating (anhidrosis)
- Shoulder blades that stick out (winging)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD lists X-linked inheritance. It doesn't name a gene.
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 Van den Bosch syndrome.
Explore research for Van den Bosch syndrome
Explore actively recruiting Van den Bosch syndrome studies with HealthSpark.
Find actively recruiting studies for Van den Bosch 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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