Living with Camptodactyly-taurinuria syndrome
An extremely rare genetic syndrome with permanently bent fingers and extra taurine in the urine.
Understanding Camptodactyly-taurinuria syndrome
The bent finger mostly affects the little finger, but any finger can be involved. It has been described in 17 people from 4 unrelated families. It starts in infancy. No new reports have appeared since 1966.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Permanently bent fingers (camptodactyly)
- Bent toes
- Extra taurine in the urine
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 bone and joint 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 cause this condition. An autosomal dominant pattern has been suggested, so one changed copy of the gene would be enough.
Also known as: camptodactyly taurinuria syndrome; familial streblodactyly with amino-aciduria
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 Camptodactyly-taurinuria syndrome.
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