Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

Also known as: JBTS with JATD, Joubert syndrome with JATD

18 clinical trials for this condition and its sub-types, 0 tagged with Joubert syndrome with Jeune asphyxiating thoracic dystrophy itself.