Joubert syndrome and related disorders short rib-polydactyly syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy ICD10:Q04.3 JBTS with JATD Joubert syndrome with JATD 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. MONDO:0018342 Orphanet:397715 SCTID:733418003 UMLS:C4518774 UMLS:CN225944 hereditary connective tissue disorder