Living with Jeune thoracic dystrophy
An inherited bone growth condition with a narrow chest, short ribs, short limbs, and extra fingers or toes.
Understanding Jeune thoracic dystrophy
People can also have short arms and legs, short stature, and extra fingers and toes. A narrow, bell-shaped chest can limit lung growth and cause breathing problems. Some people have milder bone differences and only mild breathing trouble. Over time, kidney problems can develop, and heart defects, airway narrowing, liver disease, and an eye disease called retinal dystrophy are also possible.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow chest
- Short ribs
- Breathing difficulty
- Short arms and legs
- Short fingers and toes
- Extra fingers or toes (polydactyly)
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, kidney specialists and lung and breathing 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Little People of America
- 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 genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: asphyxiating thoracic dystrophy; asphyxiating thoracic dystrophy of the newborn; chondroectodermal dysplasia-like syndrome; infantile thoracic dystrophy; jatd; jeune asphyxiating thoracic dystrophy
Patient organizations
- Little People of AmericaJeune thoracic dystrophy · United States
- The MAGIC FoundationJeune thoracic dystrophy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Jeune thoracic dystrophy.
Explore research for Jeune thoracic dystrophy
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