Living with Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
A rare inherited syndrome with short stature, short fingers and toes, and a progressive eye condition.
Understanding Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
It has mild to severe short stature, short fingers and toes (brachydactyly), and breakdown of the retina, usually retinitis pigmentosa. Intellectual disability, delayed development, and facial differences vary. It starts in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short fingers or toes (brachydactyly)
- Retina breakdown (retinal degeneration)
- Night blindness
- Intellectual disability
- Delayed speech and development
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.
- 3Consider genetic testing
Changes in CWC27 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
- 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 the CWC27 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: brachydactyly-short stature-retinitis pigmentosa syndrome; retinitis pigmentosa with or without skeletal anomalies
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 Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome.
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