Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Findings
No curated finding names Joubert syndrome with Jeune asphyxiating thoracic dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Definition from the Mondo Disease Ontology (MONDO:0018342), read 2026-09-29. CC BY 4.0.
Features
73 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Elongated superior cerebellar peduncleHPOHP:0011933
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Hyperechogenic kidneysHPOHP:0004719
- Frequent (30% to 79% of cases)
- Molar tooth sign on MRI
Show the remaining 61
- Abnormal basal ganglia morphologyHPOHP:0002134
- Occasional (5% to 29% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Occasional (5% to 29% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
- Abnormal optic disc morphologyHPOHP:0012795
- Occasional (5% to 29% of cases)
- Absent septum pellucidumHPOHP:0001331
- Occasional (5% to 29% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Also called
- JBTS with JATDJoubert syndrome with JATD