Living with Chondrodysplasia punctata 2 X-linked dominant
A genetic condition mostly in females that affects bones, skin, hair, and eyes, with spotted bone changes seen on X-ray in infancy.
Understanding Chondrodysplasia punctata 2 X-linked dominant
Almost everyone has stippling (a spotted look on X-rays) near the ends of bones and in cartilage. It shows in infancy and fades in early childhood. Other features include uneven shortening of upper arm and thigh bones, a curved spine, and short stature. Babies are born with dry, scaly skin in a line or swirl pattern that fades, and most have cataracts from birth or early childhood. GARD lists onset during pregnancy, at birth, and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spotted bone changes on X-ray (epiphyseal stippling)
- Dry, scaly skin (ichthyosis)
- Clouded eye lens (cataract)
- Short stature
- Arms or legs of different lengths or widths
- Flat nasal bridge and uneven facial shape
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in EBP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Little People of America, Foundation for Ichthyosis and Related Skin Types
- 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 and other patient organizations
- 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 the EBP gene cause this condition. It is X-linked dominant, meaning the gene is on the X chromosome.
Also known as: cdpx2; cdpxd; chondrodysplasia punctata 2, x-linked dominant; chondrodysplasia punctata caused by mutation in ebp; chondrodysplasia punctata, conradi-hunermann type; chondrodysplasia punctata, conradi-hünermann type
Patient organizations
- Little People of AmericaChondrodysplasia punctata 2 X-linked dominant · United States
- The MAGIC FoundationChondrodysplasia punctata 2 X-linked dominant · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chondrodysplasia punctata 2 X-linked dominant.
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