asphyxiating thoracic dystrophy (DOID:0050592)
Alliance: disease page
Synonyms: Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy
Alt IDs: ICD10CM:Q77.2, OMIM:PS208500, ORDO:474
Definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.