Living with Camptodactyly syndrome, Guadalajara type 3
A rare genetic bone condition with bent fingers, a short neck with skin folds, and distinct facial features.
Understanding Camptodactyly syndrome, Guadalajara type 3
It is seen at birth. Facial features include a flat face, widely spaced eyes, and a receding chin. The neck is short with skin webs. Other features include spine differences, flexed wrists, many moles, mild intellectual disability, and delayed bone age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Flat face and widely spaced eye corners
- Short neck
- Mild intellectual disability
- Delayed bone maturation
- Many moles
- Thin bones (osteopenia)
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 dominant, so one changed copy of the gene is enough.
Also known as: camptodactyly syndrome guadalajara type 3; camptodactyly syndrome, guadalajara, type iii
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 syndrome, Guadalajara type 3.
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