Mondo Description 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.

Disease Ontology Description An autosomal recessive disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.