Living with Chondrodysplasia punctata
A rare condition present at birth that affects how cartilage and joints form, and can involve the skin and learning.
Understanding Chondrodysplasia punctata
GARD lists small calcium deposits in cartilage, stiff joints with limited movement (contractures), intellectual disability, and dry, scaly skin (ichthyosis) as symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these features:
- Small calcium deposits in cartilage
- Stiff joints with limited movement (contractures)
- Intellectual disability
- Dry, scaly skin (ichthyosis)
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.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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 cause this condition but doesn't name a specific gene.
Also known as: cdp; chondrodysplasia calcificans congenita; chondrodysplasia punctata (stippled epiphyses) group; chondrodysplasia punctata congenita; chondrodysplasia punctata, unclassified
Patient organizations
- Little People of AmericaChondrodysplasia punctata · United States
You are more than your diagnosis
Perspectives from people navigating life with Chondrodysplasia punctata.
Explore research for Chondrodysplasia punctata
Explore actively recruiting Chondrodysplasia punctata studies with HealthSpark.
Find actively recruiting studies for Chondrodysplasia punctata 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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