Living with Rhizomelic chondrodysplasia punctata
A rare inherited condition from before or at birth that affects bone growth, the face, the eyes, breathing, and development.
Understanding Rhizomelic chondrodysplasia punctata
It causes short upper arm and thigh bones (rhizomelia) and a bone growth change that shows on x-rays. Joints can become stiff. Nearly everyone has cataracts, present at birth or in early infancy. It also brings significantly delayed development, severe intellectual disability, slow growth, and often seizures and repeated breathing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms and thighs (rhizomelia)
- Cataracts (clouded eye lenses)
- Slow growth and short height
- Stiff joints (contractures)
- Small head size (microcephaly)
- Flat face and eye folds
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, eye disease 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, Epilepsy Foundation
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent. It does not name a gene in this record.
Also known as: chondrodysplasia punctata, autosomal recessive type; chondrodysplasia punctata, rhizomelic form; chondrodysplasia punctata, rhizomelic type; rcdp; rcdp - rhizomelic chondrodysplasia punctata; rhizomelic chondrodysplasia punctata syndrome
Patient organizations
- Little People of AmericaRhizomelic chondrodysplasia punctata · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Rhizomelic chondrodysplasia punctata.
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