Living with Joubert syndrome with Jeune asphyxiating thoracic dystrophy
A rare genetic condition that combines Joubert syndrome brain features with the narrow chest and short bones of Jeune syndrome.
Understanding Joubert syndrome with Jeune asphyxiating thoracic dystrophy
It has the classic features of Joubert syndrome: low muscle tone, unusual breathing and eye movements, balance problems, and thinking difficulties. It also has the bone differences of Jeune syndrome: short ribs, a long, narrow chest that can make breathing hard, short limbs, short height, and extra fingers or toes. Cysts in the kidneys, liver scarring, and retinal disease can also occur. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Fast breathing (tachypnea)
- Small cerebellum
- Eye movement difficulty (oculomotor apraxia)
- Slow weight gain (failure to thrive)
- Kidney differences
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
National Ataxia 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: National Ataxia 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 Joubert Syndrome & Related Disorders Foundation 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: jbts with jatd; joubert syndrome with jatd; joubert syndrome with jatd (jeune asphyxiating thoracic dystrophy)
Patient organizations
- Joubert Syndrome & Related Disorders FoundationJoubert syndrome with Jeune asphyxiating thoracic dystrophy · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Joubert syndrome with Jeune asphyxiating thoracic dystrophy.
Explore research for Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Explore actively recruiting Joubert syndrome with Jeune asphyxiating thoracic dystrophy studies with HealthSpark.
Find actively recruiting studies for Joubert syndrome with Jeune asphyxiating thoracic dystrophy 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Joubert syndrome with Jeune asphyxiating thoracic dystrophy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Joubert syndrome with Jeune asphyxiating thoracic dystrophy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.