Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Definition
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 — per MONDO