Living with Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
An extremely rare genetic bone condition with long fingers, bent fingers, and a curved spine.
Understanding Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
The long fingers become clear around age 10. Mild intellectual disability and mild facial differences, such as a broad nose and flared nostrils, have also been reported. It starts at birth. No new reports have appeared since 1972.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, these are the main features:
- Long, slender fingers (arachnodactyly)
- Permanently bent fingers (camptodactyly)
- Curved spine (scoliosis)
- Mild intellectual disability
- Broad nose and flared nostrils
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, 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.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome; camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome; goodman camptodactyly
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 with fibrous tissue hyperplasia and skeletal dysplasia.
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