Jeune syndrome
Findings
No curated finding names Jeune syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Definition from the Mondo Disease Ontology (MONDO:0018770), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Abnormal clavicle morphologyHPOHP:0000889
- Frequent (30% to 79% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Frequent (30% to 79% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
Show the remaining 12
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- NephronophthisisHPOHP:0000090
- Occasional (5% to 29% of cases)
Genes
12 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.
- GRK2HGNC:289
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- CEP120HGNC:26690
- Supportive · Orphanet · Autosomal recessive · 2021
- DYNC2H1HGNC:2962
- Supportive · Orphanet · Autosomal recessive · 2021
- DYNC2I1HGNC:21862
- Supportive · Orphanet · Autosomal recessive · 2021
- DYNC2I2HGNC:28296
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (24)
- asphyxiating thoracic dystrophy 1
- asphyxiating thoracic dystrophy 2
- asphyxiating thoracic dystrophy 3
- asphyxiating thoracic dystrophy 4
- asphyxiating thoracic dystrophy 5
- Beemer-Langer syndrome
- Ellis-van Creveld syndrome
- Jeune syndrome - GRK2-related
- short-rib thoracic dysplasia 10 with or without polydactyly
- short-rib thoracic dysplasia 11 with or without polydactyly
- short-rib thoracic dysplasia 13 with or without polydactyly
- short-rib thoracic dysplasia 14 with polydactyly
- short-rib thoracic dysplasia 15 with polydactyly
- short-rib thoracic dysplasia 16 with or without polydactyly
- short-rib thoracic dysplasia 17 with or without polydactyly
- short-rib thoracic dysplasia 18 with polydactyly
Other names
6 names
Resolves to: Jeune syndrome
- Also called
- Asphyxiating Thoracic Dystrophyasphyxiating thoracic dystrophy of the newbornJATDJeune asphyxiating thoracic dystrophyshort-rib thoracic dysplasiathoracic pelvic phalangeal dystrophy