Living with Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
A rare bone condition with very short stature, scoliosis, hip dislocation, hearing loss, and a retina disease.
Understanding Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
It includes worsening curve of the spine (scoliosis) and dislocated hips on both sides. People also have hearing loss from the inner ear and retinitis pigmentosa, a retina disease. X-rays show thin bones, delayed bone age, and differences in the thighbone head. It is inherited as autosomal dominant with variable penetrance, meaning not everyone with the gene change has the same signs.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Severe short stature
- Progressive scoliosis
- Dislocated hips on both sides
- Hearing loss from the inner ear
- Retinitis pigmentosa (retina disease)
- Thin bones (osteoporosis)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD doesn't describe a specific cause. It is inherited in an autosomal dominant way with variable penetrance, meaning one changed copy of a gene can be enough but effects vary.
Also known as: osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
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 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome.
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