Jeune syndrome

Also known as: Asphyxiating thoracic dystrophy

Narrow thorax with short ribs, polydactyly and renal disease.

Medical 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

Etiology & mechanism

Ciliary intraflagellar transport defects.

Gene(s) involved (10)

CEP120DYNC2H1IFT140IFT172IFT80INTUTTC21BWDR19WDR34WDR60

Symptoms & signs (6)

liver diseasenarrow thoraxpolydactylyrenal failurerespiratory distressshort ribs

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.