Living with Thoracomelic dysplasia
An extremely rare bone condition with a bell-shaped chest, short stature, and joint differences in the arms.
Understanding Thoracomelic dysplasia
Other features include a small pelvis, elbow bones that can slip out of place, and long lower leg bones (fibulae). GARD says the bone differences tend to ease with age. It is noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bell-shaped chest
- Narrow chest and short ribs
- Short limbs for body size
- Elbow dislocation
- Knock knees (genu valgum)
- Loose joints (joint hypermobility)
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, genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- 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 says this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: rivera-perez-salas syndrome; thoracolimb dysplasia, rivera type
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 Thoracomelic dysplasia.
Explore research for Thoracomelic dysplasia
Explore actively recruiting Thoracomelic dysplasia studies with HealthSpark.
Find actively recruiting studies for Thoracomelic dysplasia 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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