Pulmonology · Pulmonology / Congenital malformation
Jeune syndrome
also: Asphyxiating thoracic dystrophy
Narrow thorax with short ribs, polydactyly and renal disease.
- Specialty
- Pulmonology
- Subspecialty
- Pulmonology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, neonatal respiratory distress
- Gene(s) involved
- CEP120, DYNC2H1, IFT140, IFT172, IFT80, INTU, TTC21B, WDR19, WDR34, WDR60
- Alternative names & eponyms
- Asphyxiating thoracic dystrophy
Etiology & mechanism
Ciliary intraflagellar transport defects.
Gene(s) involved (10)
Symptoms & signs (6)
In plain terms, someone with Jeune syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Ellis–van Creveld syndrome
polydactyly, respiratory distress, short ribs
1 shared
Action myoclonus–renal failure syndrome
renal failure
1 shared
Alström syndrome
renal failure
1 shared
Bardet–Biedl syndrome
polydactyly
1 shared
Burnett syndrome
renal failure
1 shared
Denys–Drash syndrome
renal failure
1 shared
Dyskeratosis congenita
liver disease
1 shared
Gray baby syndrome
respiratory distress
1 shared
Meckel–Gruber syndrome
polydactyly
1 shared
Middle East respiratory syndrome
renal failure
Shares genes with
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